Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
The chemical reactions involved in the production and utilization of various forms of energy in cells.
Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
An infant during the first month after birth.
A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.
Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
A territory of Australia consisting of Canberra, the national capital and surrounding land. It lies geographically within NEW SOUTH WALES and was established by law in 1988.
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
A mitochondrial flavoprotein, this enzyme catalyzes the oxidation of 3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA using FAD as a cofactor. Defects in the enzyme, is associated with isovaleric acidemia (IVA).
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
Incorrect diagnoses after clinical examination or technical diagnostic procedures.
Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.
An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.
A subclass of enzymes which includes all dehydrogenases acting on carbon-carbon bonds. This enzyme group includes all the enzymes that introduce double bonds into substrates by direct dehydrogenation of carbon-carbon single bonds.
A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
The chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (ANABOLISM) and the breakdown (CATABOLISM) of organic materials utilized by the living organism.
Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
A condition of substandard growth or diminished capacity to maintain normal function.
Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.
An NAD-dependent 3-hydroxyacyl CoA dehydrogenase that has specificity for acyl chains containing 8 and 10 carbons.
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
An enzyme that, in the course of purine ribonucleotide biosynthesis, catalyzes the conversion of 5'-phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole to 5'-phosphoribosyl-4-carboxamide-5-aminoimidazole and the conversion of adenylosuccinic acid to AMP. EC 4.3.2.2.
A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.
An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.
Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.
An individual in which both alleles at a given locus are identical.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Elements of limited time intervals, contributing to particular results or situations.
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
An enzyme of the urea cycle which splits argininosuccinate to fumarate plus arginine. Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1.
The chemical alteration of an exogenous substance by or in a biological system. The alteration may inactivate the compound or it may result in the production of an active metabolite of an inactive parent compound. The alterations may be divided into METABOLIC DETOXICATION, PHASE I and METABOLIC DETOXICATION, PHASE II.
A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
An enzyme that catalyzes the cyclization of hydroxymethylbilane to yield UROPORPHYRINOGEN III and water. It is the fourth enzyme in the 8-enzyme biosynthetic pathway of HEME, and is encoded by UROS gene. Mutations of UROS gene result in CONGENITAL ERYTHROPOIETIC PORPHYRIA.
The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)
A mass spectrometry technique using two (MS/MS) or more mass analyzers. With two in tandem, the precursor ions are mass-selected by a first mass analyzer, and focused into a collision region where they are then fragmented into product ions which are then characterized by a second mass analyzer. A variety of techniques are used to separate the compounds, ionize them, and introduce them to the first mass analyzer. For example, for in GC-MS/MS, GAS CHROMATOGRAPHY-MASS SPECTROMETRY is involved in separating relatively small compounds by GAS CHROMATOGRAPHY prior to injecting them into an ionization chamber for the mass selection.
An amino acid produced in the urea cycle by the splitting off of urea from arginine.
A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
Closed vesicles of fragmented endoplasmic reticulum created when liver cells or tissue are disrupted by homogenization. They may be smooth or rough.
A superfamily of hundreds of closely related HEMEPROTEINS found throughout the phylogenetic spectrum, from animals, plants, fungi, to bacteria. They include numerous complex monooxygenases (MIXED FUNCTION OXYGENASES). In animals, these P-450 enzymes serve two major functions: (1) biosynthesis of steroids, fatty acids, and bile acids; (2) metabolism of endogenous and a wide variety of exogenous substrates, such as toxins and drugs (BIOTRANSFORMATION). They are classified, according to their sequence similarities rather than functions, into CYP gene families (>40% homology) and subfamilies (>59% homology). For example, enzymes from the CYP1, CYP2, and CYP3 gene families are responsible for most drug metabolism.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.
Schedules of medical and nursing procedures, including diagnostic tests, medications, and consultations designed to effect an efficient, coordinated program of treatment. (From Mosby's Medical, Nursing & Allied Health Dictionary, 4th ed)
A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).
The taking of a blood sample to determine its character as a whole, to identify levels of its component cells, chemicals, gases, or other constituents, to perform pathological examination, etc.
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
A diet that contains limited amounts of protein. It is prescribed in some cases to slow the progression of renal failure. (From Segen, Dictionary of Modern Medicine, 1992)
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.
An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.
The magnitude of INBREEDING in humans.
A metabolic process that converts GLUCOSE into two molecules of PYRUVIC ACID through a series of enzymatic reactions. Energy generated by this process is conserved in two molecules of ATP. Glycolysis is the universal catabolic pathway for glucose, free glucose, or glucose derived from complex CARBOHYDRATES, such as GLYCOGEN and STARCH.
Enzymes that catalyze the first step in the beta-oxidation of FATTY ACIDS.
Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Evaluation of biomedical technology in relation to cost, efficacy, utilization, etc., and its future impact on social, ethical, and legal systems.
The rate dynamics in chemical or physical systems.
A cobalt-containing coordination compound produced by intestinal micro-organisms and found also in soil and water. Higher plants do not concentrate vitamin B 12 from the soil and so are a poor source of the substance as compared with animal tissues. INTRINSIC FACTOR is important for the assimilation of vitamin B 12.
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.
Pathological processes of the LIVER.
The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)
An individual having different alleles at one or more loci regarding a specific character.
Biochemical identification of mutational changes in a nucleotide sequence.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.
Stable carbon atoms that have the same atomic number as the element carbon, but differ in atomic weight. C-13 is a stable carbon isotope.
A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.
A nonmetallic element with atomic symbol C, atomic number 6, and atomic weight [12.0096; 12.0116]. It may occur as several different allotropes including DIAMOND; CHARCOAL; and GRAPHITE; and as SOOT from incompletely burned fuel.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Computer-based representation of physical systems and phenomena such as chemical processes.
Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
An essential amino acid that is physiologically active in the L-form.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: a control enzyme in ketogenesis. (1/628)

Cytosolic and mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthases were first recognized as different chemical entities in 1975, when they were purified and characterized by Lane's group. Since then, the two enzymes have been studied extensively, one as a control site of the cholesterol biosynthetic pathway and the other as an important control site of ketogenesis. This review describes some key developments over the last 25 years that have led to our current understanding of the physiology of mitochondrial HMG-CoA synthase in the HMG-CoA pathway and in ketogenesis in the liver and small intestine of suckling animals. The enzyme is regulated by two systems: succinylation and desuccinylation in the short term, and transcriptional regulation in the long term. Both control mechanisms are influenced by nutritional and hormonal factors, which explains the incidence of ketogenesis in diabetes and starvation, during intense lipolysis, and in the foetal-neonatal and suckling-weaning transitions. The DNA-binding properties of the peroxisome-proliferator-activated receptor and other transcription factors on the nuclear-receptor-responsive element of the mitochondrial HMG-CoA synthase promoter have revealed how ketogenesis can be regulated by fatty acids. Finally, the expression of mitochondrial HMG-CoA synthase in the gonads and the correction of auxotrophy for mevalonate in cells deficient in cytosolic HMG-CoA synthase suggest that the mitochondrial enzyme may play a role in cholesterogenesis in gonadal and other tissues.  (+info)

Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. (2/628)

BACKGROUND: A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition. METHODS: We used 1H NMR spectroscopy to study serum and urine from the patient. RESULTS: The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the serum and approximately 20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography-mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient. CONCLUSIONS: DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.  (+info)

1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism. (3/628)

BACKGROUND: The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H-NMR as a tool in evaluation of patients with these disorders. METHODS: We performed 1H-NMR spectroscopy on 500 and 600 MHz instruments with a standardized sample volume of 500 microL. We studied body fluids from 25 patients with nine inborn errors of purine and pyrimidine metabolism. RESULTS: Characteristic abnormalities could be demonstrated in the 1H-NMR spectra of urine samples of all patients with diseases in the pyrimidine metabolism. In most urine samples from patients with defects in the purine metabolism, the 1H-NMR spectrum pointed to the specific diagnosis in a straightforward manner. The only exception was a urine from a case of adenine phosphoribosyl transferase deficiency in which the accumulating metabolite, 2,8-dihydroxyadenine, was not seen under the operating conditions used. Similarly, uric acid was not measured. We provide the 1H-NMR spectral characteristics of many intermediates in purine and pyrimidine metabolism that may be relevant for future studies in this field. CONCLUSION: The overview of metabolism that is provided by 1H-NMR spectroscopy makes the technique a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism.  (+info)

Inborn errors of metabolism: medical and administrative "orphans". (4/628)

CONTEXT: Inborn errors of metabolism are genetic conditions that affect the normal biochemical functions of the body in any organ and at any age. More than 500 metabolic diseases are known; almost all are classified as orphan diseases under the US Food and Drug Administration guidelines (incidence < 200,000 persons) and each has its own requirements for diagnosis and treatment. Management of these complex, lifelong, multisystem disorders often requires a coordinated, multidisciplinary approach involving several subspecialists and which may include complex laboratory evaluations, genetic counseling, nutritional therapy, and unusual therapeutic approaches that have been used in only a small number of cases. RESULTS: Not infrequently, inborn errors of metabolism fall outside current standard diagnostic and treatment guidelines of managed care plans. This results in delays in diagnosis and appropriate management, with increased costs to patients and to society. CONCLUSIONS: Patients with inborn errors of metabolism should not be discriminated against and all health plans should specify that access to specialists and metabolic centers are a covered benefit of the plan. The acceptance of treatment guidelines, the development of international disease classification codes for the disorders, and the performance of cost-benefit analyses would all greatly facilitate this process. However, without recognition that these disorders require such services, and steps to provide them by the insurance industry, the care of children with metabolic disorders and other chronic diseases will continue to be a source of frustration and anger among the caregivers and the families they serve.  (+info)

Pancreatic cancer and fibrinogen storage disease. (5/628)

BACKGROUND: Ductal adenocarcinoma is the most common type of pancreatic carcinoma while squamous, carcinosarcoma, sarcoma, giant cell carcinoma, and clear cell types are all rare. Hepatocellular fibrinogen storage disease is also an uncommon disorder which may be associated with hepatocellular carcinoma. Two cases of pancreatic carcinoma were encountered in a family with fibrinogen storage disease, further raising the possibility of a predilection to malignancy in this unusual disorder. The tumour in one case was of the rare clear cell type. These two cases are the basis for this report. METHODS: Sections were cut from retrieved paraffin embedded tissue and stained for routine histology. Immunohistochemistry using the avidin-biotin technique was applied for the expression of the markers p53 (D07), carcinoembryonic antigen (CEA), c-erbB-2, epithelial membrane antigen (EMA), and alpha-fetoprotein (AFP). RESULTS: Both cases were adenocarcinoma of pancreatic ductal origin. The tumour in one case showed features of a clear cell carcinoma. The tumour cells expressed p53, CEA, and EMA immunoreactivity and were negative for c-erbB-2 and AFP. CONCLUSIONS: Hepatocellular fibrinogen storage disease is rare and has been described in association with chronic hepatitis, cirrhosis, and rarely with hepatocellular carcinoma. This represents the first report of its association with carcinoma outside of the liver.  (+info)

An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. (6/628)

Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3beta-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. Bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.  (+info)

Dialysis in neonates with inborn errors of metabolism. (7/628)

BACKGROUND: Certain inborn errors of metabolism become manifest during the neonatal period by acute accumulation of neurotoxic metabolites leading to coma and death or irreversible neurological damage. Outcome critically depends on the immediate elimination of the accumulated neurotoxins. Recent technological progress provides improved tools to optimize the efficacy of neonatal dialysis. METHODS: We report our experience with continuous venovenous haemodialysis (CVVHD) in six neonates with hyperammonaemic coma due to urea-cycle disorders or propionic acidaemia and in one child with leucine accumulation due to maple-syrup urine disease (MSUD), in comparison with five patients managed by peritoneal dialysis (PD) (2 hyperammonaemia, 3 MSUD). Application of a new extracorporeal device specifically designed for use in small children permitted the establishment of stable blood circuits utilizing small-sized catheters, and the tight control of balanced dialysate flows over wide flow ranges. RESULTS: Plasma ammonia or leucine levels were reduced by 50% within 7.1 +/- 4.1 h by CVVHD and within 17.9 +/- 12.4 h by PD (P<0.05). Also, total dialysis time was shorter with CVVHD (25 +/- 21 h) than with PD (73 +/- 35 h, P<0.02). A comparison of the CVVHD results with published literature confirmed superior metabolite removal compared to PD, and suggested comparable efficacy as achieved with continuous haemofiltration techniques. Apart from accidental pericardial tamponade during catheter insertion in one case, no major complications were noted with CVVHD. In three of the five PD patients, dialysis was compromised by mechanical complications. None of the MSUD patients but four children with urea-cycle disorders died, two during the acute period and two later during the first year of life, with signs of severe mental delay. Of the eight children presenting with hyperammonaemic coma, the four with the most rapid dialytic ammonia removal rate (50% reduction in < 7 h) survived with no or moderate mental retardation, whereas slower toxin removal was always associated with a lethal outcome. Simulation studies showed that the efficacy of neonatal CVVHD is limited mainly by blood-flow restrictions. CONCLUSIONS: While CVVHD is the potentially most efficacious dialytic technique for treating acute metabolic crises in neonates, utmost care must be taken to provide an adequately sized vascular access.  (+info)

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. (8/628)

Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free N-acetylneuraminic acid (NeuAc, sialic acid). Overproduction of NeuAc is believed to result from loss of feedback inhibition of uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase) by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac). We report the cloning and characterization of human UDP-GlcNAc 2-epimerase cDNA, with mutation analysis of three patients with sialuria. Their heterozygote mutations, R266W, R266Q, and R263L, indicate that the allosteric site of the epimerase resides in the region of codons 263-266. The heterozygous nature of the mutant allele in all three patients reveals a dominant mechanism of inheritance for sialuria.  (+info)

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment ...
In the past, the management of several inherited metabolic diseases was limited to support therapy of individual symptoms. The past decade has witnessed extraordinary innovation in the treatment of several inherited metabolic diseases with different approaches now available in pre-clinical and clinical testing, including enzyme replacement therapy (ERT), substrate reduction and haematopoietic stem cells transplantation [1]. More innovative strategies, such as pharmacological chaperone therapy and gene therapy, are under investigation for selected inherited metabolic diseases [135-137].. The effect of therapeutic interventions on the respiratory manifestations of specific inherited metabolic disease has been documented by several studies. A therapeutic role of BAL aimed at reducing the accumulation of abnormal metabolites within airways has been hypothesised in some inherited metabolic diseases, although its effectiveness is still under debate. In a patient with Niemann-Pick type C disease with ...
Weglage, J; Wiedermann, D; Denecke, J; Feldmann, R; Koch, H G; Ullrich, K; Möller, H E; (2002) Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. Journal of inherited metabolic disease, 25 (6). pp. 431-6. ISSN 0141-8955 Full text not available from this repository ...
Patients must have a confirmed diagnosis of inherited metabolic disorder / inborn error of metabolism. Diagnosis should be confirmed by appropriate test(s) (enzyme and/or mutation analysis) before study entry. Patients must not be eligible for myeloablative chemotherapy as a preparative regimen for transplant due to age, co-morbidities or organ dysfunction.. Inborn errors of metabolism / Inherited Metabolic Disorders (IMD) eligible for this study include the following:. ...
Patients must have a confirmed diagnosis of inherited metabolic disorder / inborn error of metabolism. Diagnosis should be confirmed by appropriate test(s) (enzyme and/or mutation analysis) before study entry. Patients must not be eligible for myeloablative chemotherapy as a preparative regimen for transplant due to age, co-morbidities or organ dysfunction.. Inborn errors of metabolism / Inherited Metabolic Disorders (IMD) eligible for this study include the following:. ...
Learn more about Inherited Metabolic Diseases -- Overview at Medical City Dallas DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood.
BIOPKU Consulting provides strategic advice and consulting services to the biotech and pharmaceutical industry in the field of inherited metabolic diseases.
AbeBooks.com: Atlas of Inherited Metabolic Diseases (9781444112252) by Nyhan MD PhD, William L. and a great selection of similar New, Used and Collectible Books available now at great prices.
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures, …
Inborn Errors Metabolism: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Disclaimer: The information contained in this site is intended for general reference purposes only. It is not a substitute for professional medical advice or a medical exam. Always seek the advice of your physician or other qualified health professional before starting any new treatment ...
Metabolomics can be used to identify novel metabolic abnormalities and potential biomarkers associated with an inherited metabolic disorder called GLUT 1 deficiency syndrome (GLUT1-DS).
The Charles Dent Metabolic Unit (CDMU) is one of the largest and longest established services in the world for the treatment of adolescents and adults (aged 16 years and older) with inherited metabolic diseases, including, among others, phenylketonuria, homocystinuria, galactosemia, fatty acid oxidation defects, glycogen storage disorders, X-linked hypophosphatemia, peroxisomal and urea cycle defects. Staff at the unit provide specialist medical, dietetic, psychological and nursing advice. We have a purpose-built metabolic diet kitchen to support treatment and education of patients.. The unit is also a designated NHS England highly specialised lysosomal storage disorder service and includes an infusion unit which provides the facilities needed for patients on enzyme replacement and other therapies. We see patients with a range of LSDs including Fabry disease, Pompe disease, Gaucher disease, Niemann-Pick diseases, mucolipidoses and the mucopolysaccharidoses.. The unit has a long history of ...
RECOMMENDED: If you have Windows errors then we strongly recommend that you download and run this (Windows) Repair Tool.. Read our article and learn more on MedlinePlus: Inborn errors of metabolism. bluebird will also present previously-disclosed data from the Starbeam study including updated data from ALD-101, the.. Feb 18, 2015 · Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can.. inborn error of metabolism: Any of multiple rare disorders that are caused by an inherited genetic defect and that alter the bodys ability to derive energy from.. The companys engineered human enzymes are designed to modulate the extremes of amino acid metabolism in the blood to reduce toxic levels of amino acids in inborn errors of metabolism or target tumor metabolism for cancer treatment.. Inborn Errors of Metabolism 156 infancy, not with a specific laboratory abnormality, but with organomegaly, facial ...
Infections with any of the nine human herpes viruses (HHV) can be asymptomatic or life-threatening. The study of patients with severe diseases caused by HHVs, in the absence of overt acquired immunodeficiency, has led to the discovery or diagnosis of various inborn errors of immunity. The related inborn errors of adaptive immunity disrupt α/β T-cell rather than B-cell immunity. Affected patients typically develop HHV infections in the context of other infectious diseases. However, this is not always the case, as illustrated by inborn errors of SAP-dependent T-cell immunity to EBV-infected B cells. The related inborn errors of innate immunity disrupt leukocytes other than T and B cells, non-hematopoietic cells, or both. Patients typically develop only a single type of infection due to HHV, although, again, this is not always the case, as illustrated by inborn errors of TLR3 immunity resulting in HSV1 encephalitis in some patients and influenza pneumonitis in others. Most severe HHV infections in
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence to improve health outcomes for children with inherited metabolic diseases (IMD). We describe the development of our clinical data collection platform, discuss our data quality management plan, and present the findings to date from our data quality assessment, highlighting key lessons that can serve as a resource for future clinical research initiatives relating to rare diseases. Methods: At participating centres, children born from 2006 to 2015 who were diagnosed with one of 31 targeted IMD were eligible to participate in CIMDRNs clinical research stream. For all participants, we collected a minimum data set that includes information about demographics and diagnosis. For children with five prioritized IMD, we collected longitudinal data including interventions, ...
Mead Johnson Nutrition. As a mom of two children, I know through first-hand experience that the arrival of a new baby is exciting and even a little overwhelming. The first week of life can seem like a whirlwind, with so much happening. In most cases, the first week of life includes routine newborn screening. This tiny heel prick, the part of the newborn screening process we see, is vital to a newborns health because it can lead to the diagnosis of a number of disorders.. In the U.S. and many countries throughout the world, newborn screenings are simple tests that check for rare, but harmful - and even potentially fatal - disorders not apparent at birth - including inborn errors of metabolism, also called inherited metabolic disorders. Infants diagnosed with inherited metabolic disorders cannot break down one or more specific nutrients. If left unmanaged, these disorders can hinder physical and mental development.. Inherited metabolic disorders are rare, with incidences varying by country and ...
The Metabolic Management Clinic at Childrens Hospital & Medical Center is the only center in the region that specializes in treating inherited metabolic diseases and childhood diseases of the bone. We have two separate clinics that specialize in these conditions, the Inherited Metabolic Disease Clinic and the Bone Metabolic Disease Clinic.
Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.. Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A; Struys, Eduard; Papuc, Sorina M; Rauch, Anita; Hersberger, Martin; Verhoeven-Duif, Nanda M; Plecko, Barbara (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.. Plecko, Barbara; Abela, Lucia (2016). Vitamin B6-abhängige Epilepsien - ein Update. Epileptologie, 33(2):102-109. ...
Potter BK, Chakraborty P, Coyle D, Kronick JB, Wilson K, Brownell M, Chan A, Dodds L, Dyack S, Feigenbaum A, Fell D, Geraghty M, Gillis J, Rockman-Greenberg C, Guttman A, Hernandez M, Karaceper M, Khan A, Khangura SD, Laberge AM, Little J, MacKenzie J, Maranda B, Mhanni A, Miller FA, Mitchell JJ, Mitchell G, Nakhla M, Potter M, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Tingley K, Trakadis Y, Turner L, Vallance H, VanKarnebeek C, Wilson B, Yuskiv N, on behalf of CIMDRN. Building a pan-Canadian practice-based research network for inherited metabolic diseases: the first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Clinical Biochemistry 2014; 47(15): pp. 137-138 ...
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This case report describes one of the countless examples of a tragic outcome for an inherited metabolic disorder because of late diagnosis. This fact is additionally painful because the cooccurrence in two siblings of similar symptoms lasting for years did not lead to the correct diagnosis in time.. The story underlines the necessity of including the measurement of total homocysteine in all patients with unexplained neurological symptoms, particularly because metabolic disorders associated with hyperhomocysteinemia are treatable. Because of the low incidence of inherited metabolic diseases and the related limited experience with them by the majority of physicians, physicians often consider metabolic diseases at the end of the list of differential diagnoses. There are other classic reasons for the delayed diagnosis of diseases associated with hyperhomocysteinemia. There is limited knowledge that homocysteine, as a marker of several diseases, should be included in metabolic screenings (as done ...
The provisional programme will be announced in due course.. Course applications will open here in mid-October. As places are limited to 40 clinicians and 40 lab scientists and there will be a selection process if the Academy is oversubscribed; completion of the application form does not guarantee a place on the course.. Accepted delegates will be contacted within 5 weeks of the applications deadline and will be asked to submit an abstract for a case presentation on a topic related to the Academy.. Accepted delegates will also be asked to pay 75 Euro registration fee for the Academy.. Academy registration includes. ...
The Division of Biochemical Diseases actively participates in the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). CIMDRN provides the evidence needed to improve outcomes and health care services for children with inborn errors of metabolism (IEM).. IEM are a group of rare genetic diseases that affect metabolic pathways and can lead to a variety of clinical symptoms. Nearly all IEM treatment centres across Canada are participating in CIMDRN. This partnership will allow assembling information on treatments and health outcomes for a large group of participating children with IEM, together with their families. Families will have an opportunity to contribute information about their experiences with care for IEM and their own well-being.. CIMDRN team of investigators has expertise in clinical care for IEM, pediatric research, health services and policy research, and epidemiology. Working together, we will evaluate current approaches and make recommendations to improve care for ...
Corbeel, L. ; Eeckels, R. ; Van den Berghe, Georges ; Devlieger, H. ; Jaeken, J. ; et. al. Clinical and Biochemical Findings Before and After Portacaval-shunt (pcs) in Type Ib Glycogen Disease (gsd).In: Pediatric Research : international journal of human developmental biology, Vol. 14, no. 2, p. 169-169 (1980 ...
Results 29 neonates (14 female, 15 male) were identified. The mean age at presentation was 9 days (1 day-30 days, median 5 days). Of these 20% were identified due to persistent metabolic acidosis, 17% due to seizures, 17% due to family history, 14% due to hypoglycemia and 10% on newborn screening. Others presented with abnormal urine odour or persistently raised lactate (7%). The range of diagnoses included disorders of carbohydrate metabolism 20%, fat 24%, vitamins 14%, amino acids/organic acids 17% and mitochondria 10%. The most common diagnosis was MCAD. Consanguinity was present in 55%. The mean age at diagnosis was 60 days. 23/29 (79%) were amenable to treatment. ...
The findings will be published online January 8 in the journal Nature Chemical Biology. MPS is caused by the absence or malfunctioning of a lysosomal enzyme required to break down and recycle complex sugar molecules called glycosaminoglycans, which are used to build bone, tendons, skin and other tissues. If not degraded and removed, glycosaminoglycans can accumulate in cells and tissues, resulting in progressive, permanent damage affecting appearance, physical abilities, organ function and often mental development in young children. The effects range from mild to severe.. There are 11 known forms of MPS, each involving a different lysosomal enzyme. A number of treatments exist, including enzyme replacement therapy and hematopoietic stem cell transplantation, but efficacy depends upon diagnosing the disease and its specific form as early as possible. That has been problematic, said Jeffrey D. Esko, PhD, professor in the Department of Cellular and Molecular Medicine and co-director of the ...
E2. When we work up a new-onset epileptic encephalopathy in clinical practice, there is a discrepancy between what we know and what we do. While we know that we have an almost 30% chance to find a causative de novo mutation in any of the known epilepsy genes, we usually think about a possible underlying inherited metabolic disorder when we order our first round of tests. However, the full phenotypic spectrum is often unknown and the question remained how many of these inherited metabolic disorders are missed. In our recent publication of the E2 consortium, we looked for evidence of inherited genetic disorders in patients with epileptic encephalopathies. Follow us on our journey that led to a negative answer, but uncovered a complexity in finding inherited diseases that we did not anticipate. Continue reading →. ...
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Many inherited metabolic diseases may lead to varying degrees of brain damage and thus also to intellectual disability. Bone marrow transplantation (BMT) has been used for over two decades as a form of secondary prevention ...
Dhawan PS, Goodman BP. Neurologic manifestations of nutritional disorders. In: Aminoff MJ, Josephson SA, eds. Aminoffs Neurology and General Medicine. 5th ed. Philadelphia, PA: Elsevier; 2014:chap 15.. Patterson MC, Percy AK. Peripheral neuropathy in inherited metabolic disease. In: Darras BT, Jones HR, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence. 2nd ed. Philadelphia, PA: Elsevier; 2015:chap 19.. Ralph JW, Aminoff MJ. Neuromuscular complications of general medical disorders. In: Aminoff MJ, Josephson SA, eds. Aminoffs Neurology and General Medicine. 5th ed. Philadelphia, PA: Elsevier; 2014:chap 59.. Shy ME. Peripheral neuropathies. In: Goldman L, Schafer AI, eds. Goldmans Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 420. ...
Common disease of the arteries in which patches (plaques) consisting mostly of cholesterol and other lipids form on the inner arterial wall. The effect of these deposits is that the vessels become rigid and narrowed, leading to a reduced flow of blood.. Narrowing of arteries in different parts of the body leads to different problems. If arteries in the heart (coronary arteries) become narrowed it can lead to a heart attack. If arteries leading to the brain become narrowed, the result can be a stroke. Atherosclerosis in the legs can lead to problems with ulcers in the feet and toes.. Atherosclerosis is associated with high blood pressure, obesity, diabetes, and some inherited metabolic diseases. In some cases, segments of blocked arteries may be surgically bypassed (as in coronary bypass surgery). Preventive measures include cessation of smoking, a low-fat diet, exercise, and avoidance of stress. ...
Hoogerland, J. A. , Peeks, F. , Hijmans, B. S., Wolters, J. C. , Kooijman, S., Bos, T. , Bleeker, A. , van Dijk, T. H. , Wolters, H., Gerding, A., van Eunen, K. , Havinga, R. , Pronk, A. C. M., Rensen, P. C. N., Mithieux, G., Rajas, F., Kuipers, F. , Reijngoud, D-J. , Derks, T. G. J. & Oosterveer, M. H. , 7-Apr-2021 , (E-pub ahead of print) In: Journal of Inherited Metabolic Disease. 14 p. Research output: Contribution to journal › Article › Academic › peer-review ...
This article discusses inborn errors of metabolism (IEM) are single gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates or fats. Individually they are rare but together they are common with a collective incidence in ~ 1 in 3,000 live births.
A. There are plausible disease-causing mutations(i) within, affecting or encompassing an interpretable functional region(ii) of this gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. B. There are plausible disease-causing mutations(i) within, affecting or encompassing cis-regulatory elements convincingly affecting the expression of a single gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.. AND. D. Evidence indicates that disease-causing mutations follow a Mendelian pattern of causation appropriate for reporting in a diagnostic ...
A. There are plausible disease-causing mutations(i) within, affecting or encompassing an interpretable functional region(ii) of this gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. B. There are plausible disease-causing mutations(i) within, affecting or encompassing cis-regulatory elements convincingly affecting the expression of a single gene identified in multiple (,3) unrelated cases/families with the phenotype(iii).. OR. C. As definitions A or B but in 2 or 3 unrelated cases/families with the phenotype, with the addition of convincing bioinformatic or functional evidence of causation e.g. known inborn error of metabolism with mutation in orthologous gene which is known to have the relevant deficient enzymatic activity in other species; existence of an animal model which recapitulates the human phenotype.. AND. D. Evidence indicates that disease-causing mutations follow a Mendelian pattern of causation appropriate for reporting in a diagnostic ...
Finden Sie alle Bücher von O. Sperling, A.De Vries - Inborn Errors of Metabolism in Man (Pt. 2). Bei der Büchersuchmaschine eurobuch.de können Sie antiquarische und Neubücher VERGLEICHEN UND SOFORT zum Bestpreis bestellen. 3805528353
Inborn errors of calcium and bone metabolism : monograph based upon proceedings of the twelfth symposium of the Society for the Study of Inborn Errors of ...
Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of their pathogenesis, considerably broadened their spectrum of immunological and clinical phenotypes, and enabled successful targeted therapeutic interventions. These studies have also been of great scientific merit, challenging a number of immunological notions initially established in inbred mice while revealing previously unrecognized mechanisms of host defense by leukocytes and other cells and of both innate and adaptive tolerance to self. ...
The molecular genetic diagnosis of inherited metabolic disorders is challenging. The diseases are rare, and most show locus heterogeneity. Hence, testing of the genes associated with IMDs is time consuming and often not easily available. We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NPC1, NPC2, VPS33B, WFS1, and SLC19A2) were amplified by PCR and hybridized to the array. A further patient cohort with 48 different mutations in NPC1 were analyzed blind. Out of 76 point variants, 73 were identified using automated software analysis followed by manual review. Ten insertion and deletion variants were detected in the extra tiling using mutation specific probes, with 11 heterozygous deletions and 3 heterozygous insertions. In summary, we identified 96% (95%
Signs of Congenital chloride diarrhea including medical signs and symptoms of Congenital chloride diarrhea, symptoms, misdiagnosis, tests, common medical issues, duration, and the correct diagnosis for Congenital chloride diarrhea signs or Congenital chloride diarrhea symptoms.
Schindler/Kanzaki disease can be an inherited metabolic disease without current treatment plans. first is certainly enzyme substitute therapy, where in fact the lacking enzymatic activity is certainly supplied by regular shots of enzyme purified from recombinant resources. This therapy continues to be approved for the treating Fabry, Gaucher, and Pompe illnesses and mucopolysaccharidosis-I, -II, and -VI (15). Another strategy is certainly substrate decrease therapy, where an inhibitor of the enzyme upstream within a biosynthetic pathway qualified prospects to decreased substrate deposition (16). Another approach is certainly pharmacological chaperone therapy, where in fact the mutant enzyme is certainly stabilized with the addition of a small-molecule chaperone. This plan has been suggested for Gaucher and Pompe illnesses and happens to be in stage III clinical studies for Fabry disease (17, 18). Around 50% of Fabry disease mutations result in problems in the folding or balance from the enzyme, ...
Dr. Antonia Ribes, received her speciality in Clinical Biochemistry and her PhD at the University of Barcelona. At present she is the head of the Division of Inherited Metabolic Diseases at Hospital Clinic of Barcelona, Spain. She is the group leader of the 737 Unit of the Spanish Research Network for Rare Diseases (CIBERER), and the group leader of Inherited Metabolic Diseases at the Research Institute of Hospital Clinic (IDIBAPS). She is a council member of the SSIEM. She has focused her research on translational medicine in the field of inherited metabolic diseases, particularly in the energy metabolism. The strategic objective of her group is to investigate the genetic and biochemical bases, as well as the physiopathological mechanisms of these diseases, with the ultimate aim to develop new diagnostic and therapeutic strategies.. ...
Acute fatty liver of pregnancy (AFLP) and the syndrome of hemolysis, elevated liver enzymes, and low platelets (the HELLP syndrome) are serious disorders of the third trimester with high maternal and perinatal morbidity and mortality. Over the past d
Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot (DBS) specimens has been routinely used since the inception of newborn screening (NBS) for phenylketonuria in the 1960s. The introduction of flow injection analysis tandem mass spectrometry (FIA–MS/MS) in the 1990s facilitated the expansion of NBS for IMDs. This has led to increased identification of patients who require biochemical monitoring. Monitoring of IMD patients using DBS specimens is widely favoured due to the convenience of collecting blood from a finger prick onto filter paper devices in the patient’s home, which can then be mailed directly to the laboratory. Ideally, analytical methodologies with a short analysis time and high sample throughput are required to enable results to be communicated to patients in a timely manner, allowing prompt therapy adjustment. The development of ultra-performance liquid chromatography (UPLC–MS/MS), means that metabolic laboratories now have the
Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the
Children presenting to intensive care with undiagnosed inherited metabolic diseases (IMDs) can pose a significant diagnostic and management challenge to intensivists. This chapter covers the range of presentations of IMDs in neonates in particular, addressing important points to be raised in the history and assessment of children suspected of these conditions-including perinatally. The main subgroups of IMD presenting in the neonatal period are explained: intoxication; energy deficiency; making and breaking complex molecules and seizures; and important differentiating features noted. Baseline investigations of a suspected IMD are listed, and the importance of considering and testing for hyperammonaemia discussed. The emergency treatment of acute crisis or first presentation of IMDs is set out, which includes calculating appropriate glucose intake. Finally, the chapter discusses the role of continuous veno-venous haemofiltration in hyperammonaemia and the option of liver and hepatocyte transplantation in
TY - JOUR. T1 - Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. AU - Eyaid, W.. AU - Al Harbi, T.. AU - Anazi, S.. AU - Wamelink, M.M.C.. AU - Jakobs, C.A.J.M.. AU - Al Salammah, M.. AU - Al Balwi, M.. AU - Alfadhel, M.. AU - Alkuraya, F.. PY - 2013. Y1 - 2013. U2 - 10.1007/s10545-012-9577-8. DO - 10.1007/s10545-012-9577-8. M3 - Article. VL - 36. SP - 997. EP - 1004. JO - Journal of Inherited Metabolic Disease. JF - Journal of Inherited Metabolic Disease. SN - 0141-8955. IS - 6. ER - ...
Trimethylaminuria Prevention and Treatment: treatment - General: There is currently no cure for trimethylaminuria (TMAU), and treatment options are limited. However, with proper treatment or precautions, individuals with TMAU may be able to live normal, healthy lives. Generally, treatment is based on symptom management, although widely varying degrees of effectiveness have been reported. Depending on the type and cause of TMAU, an individual...
Two neonates were identified at age 48 h by expanded newborn screening, with abnormal methionine and tyrosine concentrations, which were confirmed on repeat samples. Evidence of previously unsuspected liver disease was found at recall, and there was radiological and biochemical evidence of severe liver disease with hepatic synthetic failure. After inborn errors of metabolism (IEMs) were excluded, both were considered to have neonatal haemochromatosis, on the basis of raised ferritin, iron saturation, and very high α-fetoprotein and confirmed by a mildly hyperferritinaemic sibling in the first case, and raised ferritin and iron saturation in the second. However, it was not feasible to obtain tissue confirmation as the requirement for early therapy precluded biopsy. The babies were treated with antioxidants and iron-chelating agents, and the coagulopathy and hypoalbuminaemia were corrected. Both made a complete recovery and remain well after follow-up. Newborn screening programmes could consider ...
Find local Fish Odor Syndrome (Trimethylaminuria) resources for the top U.S. cities - includes physician directory, list of local hospitals, and emergency contacts
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In children with documented or suspected hypoglycaemia, ideally the aetiology of hypoglycaemia is best investigated by analysing hormone and metabolite concentrations in blood and organic acids in urine at the time of hypoglycaemia. While many metabolic disorders can still be diagnosed from random samples, diagnosis of some, especially endocrine disorders, becomes difficult if the required samples are not taken at the time of hypoglycaemia. Under such circumstances, a controlled fast may help to elucidate the underlying cause of hypoglycaemia. If there is no clear evidence of a metabolic or endocrine defect from the baseline tests, the decision to do a controlled fast should be based on the age of the child, presence of symptoms and the frequency of attacks.. An acylcarnitine profile should always be analysed prior to organising a controlled fast as fasting can be dangerous in children with fatty acid oxidation defects. Impaired ketogenesis in these children results in accumulation of fatty ...
We describe outcomes of a large series of predominantly small and young children with IMDs belonging to the lysosomal and peroxisomal disorders who underwent transplantation with UCBT at a single center after uniform cytoreduction and were followed for 1 to 11 years (median, 4.6 years). Important variables improving OS significantly were better performance status (P , .001), higher infused CFUs (P = .02), and matched ethnicity between the CBU and the recipient (P = .05). The cumulative incidence (87.1% by day 42) and speed (median, day 22) of neutrophil engraftment was higher and faster than previously reported in large cohort studies.27,28,42 Most patients (97%) achieved and sustained full donor chimerism (, 90%) and normalized enzyme levels where measurable. This high level of donor chimerism is better than those reported in the literature after unrelated bone marrow transplantation. Although detailed, disease-specific outcomes are not fully described in this report; all surviving children ...
Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of the enzyme Flavin containing monooxygenase 3 (FMO3).When FMO3 is not working correctly, the body loses the ability to properly breakdown trimethylamine.
Gerald Vockley, MD, PhD, is Chief of the Division of Medical Genetics Director of the Center for Rare Disease Therapy, Professor of Pediatrics, University of Pittsburgh School of Medicine. Jerry Vockley, is an internationally recognized leader in medical genetics and the field of inborn errors of metabolism. Dr. Vockleys long record of groundbreaking research has earned him distinction in his field. His integrated approach to the study of inborn errors of fatty acid beta-oxidation and branched chain amino acid metabolism has led to the discovery of several new genes in the metabolic pathways and redefined these critical cellular processes. His laboratory has identified and characterized the molecular basis of three new inborn errors of metabolism in recent years. Dr.Vockley has been awarded continuous National Institutes of Health (NIH) RO1 funding since his earliest days as an independent investigator. Dr. Vockley is board-certified in pediatrics, clinical genetics and biochemical/molecular ...
Pediatric Endocrinology and Inborn Errors of Metabolism. Karl S. Roth. 1stPublisher: McGraw-Hill Medical PublishingFormat: Hardcover. Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doodys Core Title for 2011! New England Journal of Medicine Review! ...an inspiring learning tool...Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership.-New England Journal of Medicine 4 STAR DOODYS REVIEW! The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are ...
Asubio Pharma, one of the group companies of Daiichi Sankyo, has announced an additional indication for the inherited metabolic disease agent Biopten for the treatment of tetrahydrobiopterin responsive hyperphenylalaninemia. Asubios Biopten is said to be a highly pure chemically synthesized form of the tetrahydrobiopterin (BH4) that occurs naturally in the human body. It treats hyperphenylalaninemia (HPA) patients by ameliorating the serum phenylalanine level. Maruho marketed Biopten under a contract that expired at the end of June, 2008. From July 1, 2008 Daiichi Sankyo began marketing Biopten under a contract.. ...
Henk Blom finished his Chemistry study in 1985 and received his PhD in 1988 at the Radboud University Nijmegen. After his post-doc period at the Human Genetics Branch, NIH, USA (William Gahl), he became post-doc in 1990 and later in 1992 staff member of the Clinical Genetics Center Nijmegen at Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, the Netherlands. In 1997 he became Established Investigator of the Netherlands Heart Foundation and in 2003 he was registered as Clinical Biochemical Geneticist. In 2007 he was appointed as vice-head and later head of the Metabolic Unit at the Department Clinical Chemistry, VU University Medical Centre Amsterdam, the Netherlands and in 2009 he became Professor in Biochemistry of Inherited Metabolic Diseases at the VU University Medical Centre Amsterdam. Since 2014 he is head of the laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital ...
Weigh the patient and his dia un tomar cuantos viagras se pueden en or her own airway. Generally, treatments are available, developed countries [1]. Costi, r. , orton, e. , & bare, b. [1997]. 960 1. The adolescent should be suspected when there is flow into the vagina. 5. Avoidance of trigger and mode that best chance of functional independence measure or the possibility of a percutaneous endoscopic procedure into the skull base is now the leading cause of morbidity and mortality; prevalence of infection in transplant patients. Available: Www. A tempo- rary cardiac pacemaker is an antagonist of insulin. Global health considerations while no data are available for either one or both of these features (fig. 1. Provides contrast between various soft tissue to be used). Complications of mi occur each year. Nontubal sites are the most common inherited metabolic diseases, the procedure starts and platelets and rbcs. Radiation therapy is commonly seen in high-technology societies. Altered cognitive ...
The discovery of CRISPR-mediated genome editing has led to lots of excitement in the field of inborn errors of metabolism (IEMs). Individual IEMs are often rare, but as a group they are a large cause of disability and mortality in children. It is estimated that more than 1000 IEMs exist, primarily caused by monogenic mutations leading to the buildup of toxic metabolic intermediates. The opportunity to prevent such misery by correcting the defective gene or preventing the toxic accumulation has paved the way for new therapeutic avenues, especially when the intervention can be applied early in life.. Rossidis and colleagues developed a CRISPR-mediated strategy for in utero genome editing. By injecting specific editing constructs in the vitelline vein of mice, they showed that the fetus could be effectively targeted, especially in the liver and the heart. As their proof of concept, they disrupted the function of Pcsk9, a gene whose loss-of-function lowers cholesterol levels. When Pcsk9 was edited ...
The Inborn Errors of Metabolism (IEM) program helps people and families who have problems with breaking down protein in their food. They need a special diet, and the IEM program helps them pay for their specialised food.
ERYtech Pharma To Present Pre-Clinical Data At The 13th International Congress Of Inborn Errors Of Metabolism - read this article along with other careers information, tips and advice on BioSpace
Global Discovery Chemistry. Cambridge, Massachusetts, United States. Our general research interest is in building chemical and genetic tools to enable a biological pathway-based approach to gain mechanistic understanding of disease. While genetics has provided us the parts list for biology, additional approaches are needed to understand how these parts work together in healthy or diseased states. Chemical genetics allows us to fill in some of these knowledge gaps and help identify novel entry points for therapeutic intervention.. A current area of research focus is in the development of chemical and genetic tools in order to elucidate biological pathways of lysosomal storage disorders. Lysosomal storage diseases are a group of ~50 inherited metabolic disorders that result in from defects in lysosomal function. Most disorders are the consequence of a deficiency of a single enzyme required for the catabolism of lipids, glycoproteins, or mucopolysaccharides. Although most of the responsible genes ...
One-third of people with unexplained body odor may actually have an inherited metabolic disorder, a new study finds. that has a foul, fishy odor. The hereditary
Mucolipidosis is a group of inherited metabolic disorders that affect the bodys ability to carry out the normal turnover of various materials within cells.
Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation. --- Y414C --- Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion Criteria: Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy - Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion Criteria: Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy - Phenylketonuria Phenylketonurias PKU, phenylketonuria, is a rare, inherited metabolic disorder that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. --- Y414C --- Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion ...
About PKU. Phenylketonuria (PKU) is a rare, inherited metabolic disorder that is characterized by the inability of the body to utilize the essential amino acid, phenylalanine (Phe). Amino acids, usually obtained from the food we eat, are the building blocks for body proteins.. Click here to learn more My PKU Binder. My PKU Binder is a comprehensive manual on effectively managing PKU on a daily basis. These materials include the newest and best thinking on PKU and offer hundreds of tips, advice and what to expect from birth to adulthood both practically and emotionally.. Click here to learn more PKU and the Brain. Current medical evidence has led experts on PKU to suspect that current therapy for PKU may leave individuals with an increased risk for subtle deficits in brain function. To address this, a group of PKU experts recently (2010) published a 107-page supplement on current topics surrounding this issue to raise awareness in the PKU scientific community. Click here to learn more More ...
He doesnt like being on his own (unless he can watch TV) and although he cannot talk, he is very expressive when he wants something! He absolutely loves books, especially noisy books and his current favourite is the Gruffalo and The Tiger who Came to Tea. I love that he is interested in the same TV programmes and books as other children of the same age but it breaks my heart to see other children grow and develop all their physical skills (feeding themselves, potty training, dressing etc) as I know that Alex is unlikely to ever be able to do those things.. Alex has Glutaric Acuduria Type 1 (GA1). It is an Inherited Metabolic Disorder which, if left untreated, can lead to brain damage. Screening for GA1 is now included in the national screening programme but unfortunately Alex was born before this was introduced in the UK so we had no idea he had the disease. In fact, his first 6 months of life were completely normal. At 6 months old however, he fell ill with a sickness bug and he then ...
Researchers at Karolinska Institutet in Sweden have discovered that excessive degradation of the power plants of our cells plays an important role in the onset of mitochondrial disease in children. These inherited metabolic disorders can have severe consequence such as brain dysfunction and neurological impairment. The study is published in EMBO Molecular Medicine.
Nestlé today announced that it has completed the acquisition of Vitaflo, a Liverpool-based global provider of clinical nutritional products which has enjoyed double-digit growth in the order of 30% over the last 3 years. This strategic transaction allows Nestlé to enter the fast-growing global market for clinical nutrition products tailor-made for people with inherited metabolic disorders.
I have also learned it is important to eat some choline foods because if one eliminates it all together one develops a choline and lecithin deficiency which I have suffered for some years untill i realized i had to eat some choline foods and I am healing from that now. -Canna Lily
Case A 9-year-old boy was admitted to general paediatric clinic. The presenting complaint was a two year history of distinctive fish-like smell from his hands, feet, breath and sometimes urine. He was full term normal vaginal delivery with no developmental concerns. There were no other medical problems. He was the first child to consanguineous parents. To note, his 14-year-old cousin was thought to have a similar problem.. ...
This is one of many types of fatty acids, the building blocks of fat. Long-chain fatty acids are made up of chains of 12 or more carbon atoms ...
All of the genetic material (DNA) contained in a full set of chromosomes in an organism. In humans, about three billion base pairs make up our genome ...
Cynthia M. Powell, MD, professor of pediatrics and genetics in the UNC School of Medicine, is Early Check Lead Investigator for the team from UNC.
Fingerprint Dive into the research topics of Limitations to performance caused by skeletal muscle enzyme deficiencies. Together they form a unique fingerprint. ...
TY - CHAP. T1 - Metabolic disorders. AU - Edelmann, Lisa. AU - Yang, Yaping. AU - Yang, Amy. AU - Kornreich, Ruth. PY - 2016/1/1. Y1 - 2016/1/1. N2 - Inborn errors of metabolism represent a highly diverse group of genetic disorders. Although individually the disorders are rare, collectively they are estimated to affect as many as 1 in 600 individuals. This chapter discusses the molecular mechanisms of disease and the available genetic testing for selected metabolic disorders. Mutations in many of the metabolic diseases are genetically heterogeneous and diagnoses are still widely dependent on biochemical testing. DNA testing is critical for confirmatory studies, genetic counseling, carrier and prenatal testing, and genotype-phenotype correlation, and is widely used for carrier screening for metabolic disorders in certain populations that have a high frequency of specific mutations due to founder effects. With increasing use of next-generation sequencing technologies in the clinical laboratory, ...
books.google.comhttps://books.google.com/books/about/Inborn_errors_of_metabolism_in_man.html?id=otFqAAAAMAAJ&utm_source=gb-gplus-shareInborn errors of metabolism in man ...
books.google.comhttps://books.google.com/books/about/Inborn_errors_of_metabolism_in_man.html?id=otFqAAAAMAAJ&utm_source=gb-gplus-shareInborn errors of metabolism in man ...
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View Notes - bio7_ch17 from BSC 2011 at University of Florida. Biology, 7e (Campbell) Chapter 17: From Gene to Protein Chapter Questions 1) Garrod hypothesized that inborn errors of metabolism such
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1 IMoPA - Ingénierie Moléculaire et Physiopathologie Articulaire (Université de Lorraine, Faculté de Médicine, 9 avenue de la Forêt de Haye, BP 184, 54505 Vandoeuvre-les-Nancy Cedex - France) ...
The U.S. Food and Nutrition Board of the Institute of Medicine recommends that men over the age of 18 years consume 550-3,500 milligrams of choline daily; women aged 18 years old are advised to consume 400-3,000 milligrams of choline daily, while those who are older may consume 425-3,500 milligrams. Pregnant women are advised to consume 450 milligrams of choline daily, while breastfeeding women are advised to consume 550 milligrams daily. Higher doses are not recommended for people with the metabolic disorder trimethylaminuria, kidney disease, liver disease, depression, or Parkinsons disease ...
Enzyme deficiencies may result from a combination of age, diet and lifestyle. These deficiencies can lead to a variety of digestive discomforts, including occasional gas, bloating, indigestion and irregularity.
Enzyme deficiencies may result from a combination of age, diet and lifestyle. These deficiencies can lead to a variety of digestive discomforts, including occasional gas, bloating, indigestion and irregularity.
doi:10.1016/s0140-6736(01)78041-5. Garrod AE (1909). "Inborn errors of metabolism". Oxford University Press. OL 7116744M. La Du ... Garrod AE (1908). "The Croonian lectures on inborn errors of metabolism: lecture II: alkaptonuria". Lancet. 2 (4428): 73-79. ... The HGD enzyme is involved in the metabolism (chemical processing) of the aromatic amino acids phenylalanine and tyrosine. ... BN, Zannoni VG, Laster L, Seegmiller JE (1 January 1958). "The nature of the defect in tyrosine metabolism in alcaptonuria". ...
Inborn errors of metabolism , Patient". Patient. Retrieved 2016-08-11. Kishnani, Priya S.; Austin, Stephanie L.; Arn, Pamela; ... Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of ...
Inborn errors of pyruvate metabolism. In: Stanbury JB, Wyngaarden JB, Frederckson DS et al., eds. Metabolic Basis of Inherited ... Pathological similarities between Leigh disease and WE led to the hypothesis that the cause was a defect in thiamine metabolism ... Cerebral Energy Metabolism and Metabolic Encephalopathy. Plenum Publishing Corp.; 1985. Biotin-Thiamine-Responsive Basal ... Gropper, Sareen S. and Smith, Jack L. (2013). Advanced Nutrition and Human Metabolism (6 ed.). Wadsworth, Cengage Learning. p. ...
... (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is ... Hommes, F. A. (1993). "Inborn errors of fructose metabolism". Am J Clin Nutr. 58 (5): 788S-795S. doi:10.1093/ajcn/58.5.788S. ...
ISBN 978-3-540-28783-4. Tran C (April 2017). "Inborn Errors of Fructose Metabolism. What Can We Learn from Them?". Nutrients. 9 ... Other errors in fructose metabolism have greater clinical significance. Hereditary fructose intolerance, or the presence of ... Steinmann B, Santer R (2012). "Disorders of Fructose Metabolism". In Saudubray J, van den Berghe G, Walter JH (eds.). Inborn ... is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion ...
Crook, Martin Andrew (2012). "Chapter 27: Inborn errors of metabolism". Clinical biochemistry and metabolic medicine (8th ed ... This may be caused by congenital disorders of amino acid metabolism, for example, phenylketonuria, or may be secondary to liver ...
Milne, M. D. (1966). "Lessons from Inborn Errors of Metabolism". Proceedings of the Royal Society of Medicine. 59 (11 Pt 1): ... Milne, M. D. (1967). "Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism". Proceedings of ... Milne, M. D. (1971). "Amino acid metabolism in cystinuria". Biochemical Journal. 122 (1): 9P-10P. doi:10.1042/bj1220009pb. PMC ...
Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ... Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the ... Journal of Inborn Errors of Metabolism. 5 (1): 1-4. doi:10.1177/2326409817744230. Retrieved 12 March 2019. Grompe M (2016-12-20 ... Molecular Genetics and Metabolism. 107 (3): 605-7. doi:10.1016/j.ymgme.2012.09.002. PMID 23036342. De Jesús VR, Adam BW, Mandel ...
Summar, M.L.; Mew, N. A. (2018). "Inborn Errors of Metabolism with Hyperammonemia. Urea Cycle Defects and Related Disorders". ... Summar is considered an international expert on inborn errors of metabolism, specifically urea cycle disorders, and his ... Summar is currently the director of the Rare Disease Institute, chief of Genetics and Metabolism, and the Margaret O'Malley ... Molecular Genetics and Metabolism. 110 (1-2): 179-180. doi:10.1016/j.ymgme.2013.07.008. PMC 4364413. PMID 23972786. "Marshall ...
... is an inborn error of metabolism involving isoleucine catabolism and ketone body metabolism. The major clinical manifestations ... Mitchell GA, Fukao T (2001). "Inborn errors of ketone body metabolism". In Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The ... Hovik R, Brodal B, Bartlett K, Osmundsen H (June 1991). "Metabolism of acetyl-CoA by isolated peroxisomal fractions: formation ... Thioesters are more reactive than oxygen esters and are common intermediates in fatty-acid metabolism. These thioesters are ...
Ristoff E, Larsson A (2007). "Inborn errors in the metabolism of glutathione". Orphanet Journal of Rare Diseases. 2: 16. doi: ... This enzyme participates in glutamate metabolism and glutathione metabolism. At least one compound, Phosphinate is known to ... Njålsson R, Norgren S (2005). "Physiological and pathological aspects of GSH metabolism". Acta Paediatr. 94 (2): 132-7. doi: ... Glutathione synthetase deficiency Glutathione Liver Sulfur Metabolism Gogos A, Shapiro L (Dec 2002). "Large conformational ...
Histidinemia Hyperprolinemia Inborn errors of metabolism Proline Online Mendelian Inheritance in Man (OMIM): 212200 Diseases ... Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). "Inborn errors of carnosine and homocarnosine metabolism". J ... influences glucose metabolism". Diabetes. 56 (10): 2425-2432. doi:10.2337/db07-0177. PMID 17601992. Rashid I, van Reyk DM, ...
Inborn errors of metabolism Chambliss, K. L.; Hinson, D. D.; Trettel, F.; Malaspina, P.; Novelletto, A.; Jakobs, C.; Gibson, K ... Saronwala, A.; Tournay, A.; Gargus, J. J. "Genetic inborn error of metabolism provides a unique window into molecular ... an inborn error of GABA metabolism". Neuropediatrics. 29 (1): 14-22. doi:10.1055/s-2007-973527. PMID 9553943. Parviz, M.; Vogel ... Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an ...
ISBN 978-3-8055-3573-1 Tada, K., Colombo, J. P. and Desnick, R. J., eds.: Recent Advances in Inborn Errors of Metabolism. ...
Creatine Transporter Deficiency (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported ... Leuzzi, Vincenzo; Mastrangelo, Mario; Battini, Roberta; Cioni, Giovanni (2013-02-01). "Inborn errors of creatine metabolism and ... a novel inborn error of metabolism". The Lancet. 348 (9030): 789-790. doi:10.1016/s0140-6736(96)04116-5. PMID 8813986. Ohtsuki ... "Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism". Journal of Inherited Metabolic Disease ...
List of amino acid metabolism disorders inborn errors of metabolism Sarafoglou, Kyriakie; Hoffmann, Georg F.; Roth, Karl S. ( ... Standard evaluation for inborn errors of metabolism and other causes of this presentation does not reveal any abnormality (no ... eds.). Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill Medical. p. 811. "Autosomal recessive: ... The glycine cleavage system, which is responsible for glycine metabolism in the mitochondria is made up of four protein ...
... (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... Sarafoglou K, Hoffmann GF, Roth KS (eds.). Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill ... an inborn error of phenylalanine metabolism". The Clinical Biochemist. Reviews. 29 (1): 31-41. PMC 2423317. PMID 18566668. ... Molecular Genetics and Metabolism. 100 (4): 303-8. doi:10.1016/j.ymgme.2010.04.003. PMC 2906609. PMID 20466571. Burton BK, Kar ...
Main article: Inborn error of metabolism. A congenital metabolic disease is also referred to as an inborn error of metabolism. ... Ezgu, F (2016). Inborn Errors of Metabolism. Advances in Clinical Chemistry. 73. pp. 195-250. doi:10.1016/bs.acc.2015.12.001. ... Simonsen, H (25 November 2002). "[Screening of newborns for inborn errors of metabolism by tandem mass spectrometry]". ... inborn errors of metabolism (IEM)), and genetic disorders including cystic fibrosis and Duchenne muscular dystrophy.[82][84] ...
Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. "Tyrosinemia type 2". ...
Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. Alayev, Anya; Holz, ... Calcium is not the only ion that neutralizes the sulphate from protein metabolism, and overall buffering and renal acid load ... Homocystinuria is an inherited disorder involving the metabolism of the amino acid methionine leading to the accumulation of ... Cell Metabolism. doi:10.1016/j.cmet.2021.03.025. ISSN 1932-7420. PMID 33887198. Willcox, B. J.; Willcox, D. C.; Todoriki, H.; ...
Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. Booth AN, Masri MS, ... Tyrosine MS Spectrum Tyrosine metabolism Phenylalanine and tyrosine biosynthesis Phenylalanine, Tyrosine, and tryptophan ... The Journal of Clinical Endocrinology and Metabolism. 57 (4): 760-3. doi:10.1210/jcem-57-4-760. PMID 6885965. Leathwood PD, ...
"Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital" (PDF). Journal of Inborn Errors ... Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In ... Applegarth DA, Toone JR, Lowry RB (January 2000). "Incidence of inborn errors of metabolism in British Columbia, 1969-1996". ... Glycogen Metabolism themedicalbiochemistrypage.org eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth ...
"A proposed nosology of inborn errors of metabolism". Genetics in Medicine. 21 (1): 102-106. doi:10.1038/s41436-018-0022-8. ISSN ... Metabolism. 5 (3): 167-72. doi:10.1038/ncpendmet1067. PMID 19229237. Dyck, M.; Proesmans, W.; Hollebeke, E.; Marchal, G.; ...
Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. Rettenmeier R, Natt E, ...
Archibald Garrod discovered inborn errors of metabolism. An explanation for epistasis is an important manifestation of Garrod's ... In 1941, George Wells Beadle and Edward Lawrie Tatum showed that mutations in genes caused errors in specific steps of ...
"The Croonian Lectures ON INBORN ERRORS OF METABOLISM". The Lancet. 172 (4430): 214-220. 1908. doi:10.1016/S0140-6736(00)50353-5 ... Inborn Errors of Metabolism 1907 William John Simpson, On Plague 1906 William Halse Rivers, The influence of Alcohol and Other ... The nature and significance of functional metabolism in the plant. 1897 Charles S. Sherrington, The mammalian spinal cord as an ...
Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. Knox WE, LeMay-Knox M ( ... Figure 8.57: Metabolism of L-leucine Gunsior M, Ravel J, Challis GL, Townsend CA (Jan 2004). "Engineering p- ... Kohlmeier M (2015). "Leucine". Nutrient Metabolism: Structures, Functions, and Genes (2nd ed.). Academic Press. pp. 385-388. ... Molecular Genetics and Metabolism. 71 (3): 506-10. doi:10.1006/mgme.2000.3085. PMID 11073718. Zea-Rey AV, Cruz-Camino H, ...
... - an Electronic Mailing List on Inborn Errors of Metabolism. 7th International Congress of Inborn Errors of Metabolism ... Inborn error of metabolism specialists taking part in Metab-L are mostly clinicians/ pediatricians or coming from a biochemical ... L-Carnitine in inborn errors of metabolism: What is the evidence? Renner C, Connor WE, Steiner RD (2016). "Sitosterolemia ... Renner C, Razeghi S, Richter T, Ueberall MA, Schless A.: Metab-L -an electronic Mailing-List on Inborn Errors of Metabolism. ...
"Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital". Journal of Inborn Errors of ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Kim, Chan Jong (December 2014). "Congenital lipoid adrenal hyperplasia". Annals of Pediatric Endocrinology & Metabolism. 19 (4 ...
Newborn screening and inborn errors of metabolism". In Burtis, Carl A.; Ashwood, Edward R.; Bruns, David E. (eds.). Tietz ... although the odds of its success are greatly elevated when the only indication for it is an inborn error of metabolism. In ... Control of metabolism is vital during pregnancy of women with MSUD. To prevent detrimental abnormalities in development of the ... K. Tada; N.R.M. Buist; John Fernandes; Jean-Marie Saudubray; Georges van den Berghe (14 March 2013). Inborn Metabolic Diseases ...
Thermodynamic state measurement Isothermal microcalorimetry Inborn errors of metabolism Iron-sulfur world hypothesis - ... production Stream metabolism Sulfur metabolism Thermic effect of food Urban metabolism Water metabolism Overflow metabolism ... The metabolism of cancer cells is different from the metabolism of normal cells, and these differences can be used to find ... "metabolism , Origin and meaning of metabolism by Online Etymology Dictionary". www.etymonline.com. Retrieved 23 July 2020. ...
... (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter ... Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid ... Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). New York: Springer. pp. 201-216. ISBN 978-3-642-15719-6. Lee, N. ... Molecular Genetics and Metabolism. 100 (1): 46-50. doi:10.1016/j.ymgme.2009.12.015. PMID 20074989. "Rare genetic disease common ...
Inborn error of metabolism Terrie M. Rooney, ed. (1998). Contemporary Authors. 161. Gale / Cengage Learning. ISBN 9780787619947 ...
... or hematin and glucose can abort attacks of acute intermittent porphyria in patients with an inborn error of metabolism of this ... Heme is seen as an intermediate molecule in catabolism of hemoglobin in the process of bilirubin metabolism. Defects in various ... King, C.; Rios, G.; Green, M.; Tephly, T. (2000). "UDP-Glucuronosyltransferases". Current Drug Metabolism. 1 (2): 143-161. doi: ... "Liver metabolism of porphyrins and haem". Journal of Gastroenterology and Hepatology. 13 (3): 324-329. doi:10.1111/j.1440- ...
... the Society for the Study of Inborn Errors of Metabolism, United Kingdom (1990), the Mexican Association of Human Genetics, ... Latin American Society of Inborn Metabolic Errors (1998), the Society for Inherited Metabolic Disorders, USA (1998), the ...
Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, ... an inborn error of metabolism now seen as a severe form of HIDS. It is not known how mevalonate kinase mutations cause the ... Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol ...
The insufficiency of L-xylulose reductase activity causes an inborn error of metabolism disease characterized by excessive ... The enzyme is involved in carbohydrate metabolism, glucose metabolism, the uronate cycle and may play a role in the water ...
"Genetic pituitary dwarfism with high serum concentration of growth hormone-a new inborn error of metabolism?". Isr. J. Med. Sci ... Metabolism. 89 (3): 1031-1044. doi:10.1210/jc.2003-031033. ISSN 0021-972X. PMID 15001582. Laron Z, Ginsberg S, Lilos P, Arbiv M ... and metabolism. Along this spectrum of conditions, individuals with LS and growth hormone deficiency display short stature, ...
"Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism". Journal of Inherited Metabolic ...
Inborn error of metabolism Leukocyte adhesion deficiency PMM2 deficiency Jensen H, Kjaergaard S, Klie F, Moller HU (June 2003 ... is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is ... Molecular Genetics and Metabolism. 93 (1): 40-3. doi:10.1016/j.ymgme.2007.08.126. PMID 17945525. Westphal V, Kjaergaard S, ... Molecular Genetics and Metabolism. 73 (1): 77-85. doi:10.1006/mgme.2001.3161. PMID 11350186. Eklund EA, Freeze HH (2006). "The ...
Shizuta Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Rösler A, Ulick S, Imura H (January 1995). "Inborn errors of aldosterone ... van Rooyen D, Gent R, Barnard L, Swart AC (April 2018). "The in vitro metabolism of 11β-hydroxyprogesterone and 11- ... Pregnenolone can then followed one of two pathways which involve the metabolism of progesterone or the testosterone and ... Aldosterone is synthesized by following the metabolism of progesterone. In the potential case where aldosterone synthase is not ...
... an inborn error of metabolism from inherited mutation (as opposed to one from de novo mutation) Immunomodulatory drug ( ...
Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 153-161. ISBN 978-0-07- ...
Most congenital metabolic disorders known as inborn errors of metabolism result from single-gene defects. Many such single-gene ... Genetic epidemiology List of genetic disorders Population groups in biomedicine Mendelian error "Genetic Disorders". learn. ... diabetes heart disease hypertension inflammatory bowel disease intellectual disability mood disorder obesity refractive error ...
... is the presence of glutathione in the urine, and is a rare inborn error of metabolism. The condition has been ... inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase". Biochem. Biophys. Res. Commun. 65 (1): ... John Fernandes (2006). Inborn metabolic diseases: diagnosis and treatment. Springer. pp. 187-. ISBN 978-3-540-28783-4. ...
Most cases of EPP are results of inborn errors of metabolism but the metabolic defect in some patients may be acquired. ... "Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria". Blood. 110 (12): 4108-4110. doi:10.1182/blood- ...
... with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism ... For amino acid metabolism, methylmalonyl-CoA mutase works in the degradation pathways of isoleucine, threonine, valine, and ... This substrate is transformed to propionyl-CoA and undergoes the same metabolism previously described for propionyl-CoA. The ... This substrate is transformed to propanoyl-CoA and undergoes the same metabolism previously described for propanoyl-CoA. Odd ...
... and ambiguous genitalia Inborn errors of steroid metabolism 5α-Reductase (I, II) Androgen (testosterone and dihydrotestosterone ...
... a rare autosomal recessive inborn error of metabolism in amino acid metabolisms involving branched-chain amino acids valine, ... Mazumder R, Sasakawa T, Kaziro Y, Ochoa S (October 1962). "Metabolism of propionic acid in animal tissues. IX. Methylmalonyl ...
Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and ... Homocystinuria Cysteine Metabolism Amino acid S-Adenosyl-L-methionine Heme GRCh38: Ensembl release 89: ENSG00000160200 - ... CBS occupies a pivotal position in mammalian sulfur metabolism at the homocysteine junction where the decision to conserve ... Jhee KH, Kruger WD (2005). "The role of cystathionine beta-synthase in homocysteine metabolism". Antioxidants & Redox Signaling ...
... form a large class of genetic diseases involving congenital disorders of metabolism. The majority ... The term inborn errors of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in 1908. He is known for ... Inborn Errors of Metabolism at Electronic Scholarly Publishing site Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; ... Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. ...
Cessation of licorice consumption will reverse this form of AME.[citation needed] Inborn errors of steroid metabolism 11β- ... Metabolism Case Reports. 2019. doi:10.1530/EDM-18-0164. PMC 6499913. PMID 31051469. Gupta, Saurabh; Melendez, Jose; Khanna, ... Journal of Pediatric Endocrinology and Metabolism. 25 (11-12): 1083-8. doi:10.1515/jpem-2012-0113. PMID 23329753. S2CID ...
Scriver made many important contributions to our knowledge of inborn errors of metabolism. He led in establishing a nationwide ...
... is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism. Symptoms can emerge any ... polyglucosan body disease is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism ...
A new inborn error of metabolism". Journal of Inherited Metabolic Disease. 11 Suppl 2: 240-2. doi:10.1007/BF01804246. PMID ...
... diabetes Hyperthermia Maternal hypothyroidism Placental insufficiency Craniosynostosis Genetic Inborn errors of metabolism ... Kurian, Manju A; Jungbluth, Heinz (July 2014). "Genetic disorders of thyroid metabolism and brain development". Developmental ... disorders Peroxisomal disorder Glucose transporter defect Menkes disease Congenital disorders of amino acid metabolism Organic ...
... and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism". ... Sarcosine is found naturally as an intermediate in the metabolism of choline to glycine. Sarcosine is sweet to the taste and ... Sarcosine, like the related compounds dimethylglycine (DMG) and trimethylglycine (TMG), is formed via the metabolism of ... Metabolism. 42 (11): 1448-60. doi:10.1016/0026-0495(93)90198-W. PMID 7694037. Perry, Kenneth W.; Falcone, Julie F.; Fell, ...
Iron metabolism disorders Lipid metabolism disorders Malabsorption syndromes Metabolic syndrome X Inborn error of metabolism ... These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur ... Cite journal requires ,journal= (help) "Inborn errors of metabolism". MedlinePlus Medical Encyclopedia. Retrieved 27 July 2015 ... Acid-base imbalance Metabolic brain diseases Disorders of calcium metabolism DNA repair-deficiency disorders Glucose metabolism ...
This is an autosomal recessive inborn error of metabolism. It is caused by a mutation in the gene that codes for the synthesis ...
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. ... Inborn Errors of Bile Acid Metabolism.. Heubi JE1, Setchell KDR2, Bove KE2. ... Metabolism, Inborn Errors/complications. *Metabolism, Inborn Errors/diagnosis*. *Metabolism, Inborn Errors/drug therapy ...
Detection of inborn errors of metabolism: galactosemia.. Hill HZ, Puck TT.. Abstract. Radioautography of cultured, human, ... This approach may be useful in facilitating prenatal detection of several kinds of inborn errors of metabolism. ...
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant ... Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically ... Metabolism is a sequence of chemical reactions that take place in cells in the body. These reactions are responsible for the ... in the genes that tell our cells how to make the enzymes and the co-factors for metabolism. A mutation causes a gene to not ...
... impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as ... In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders ... Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle ... 4. Inborn Errors of Energy Metabolism in Muscle. 4.1. Disturbance of Glycogen Metabolism (Glycogen Storage Diseases) 4.1.1. ...
The Inborn Errors of Metabolism (IEM) program helps people and families who have problems with breaking down protein in their ... Inborn Errors of Metabolism program The Inborn Errors of Metabolism (IEM) program helps people and families who have problems ... Inborn Errors of Metabolism program officer. Contact the program officer with questions about the Inborn Errors of Metabolism ... The Inborn Errors of Metabolism (IEM) program helps people with protein metabolic disorders pay for their specialised food. ...
Helping you find trustworthy answers on Inborn Error of Small Molecule Metabolism , Latest evidence made easy ... Find all the evidence you need on Inborn Error of Small Molecule Metabolism via the Trip Database. ... Inborn Lipidoses Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Lipid Metabolism Disorders Metabolic Diseases ... System Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage ...
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority ... The term inborn errors of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in 1908. He is known for ... Inborn Errors of Metabolism at Electronic Scholarly Publishing site Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; ... Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. ...
Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis Message Subject (Your Name) has sent you a message from Pediatrics ... Inborn errors of metabolism, including urea cycle defects and many of the organic acidemias, are at the top of the list. Also ... When an inborn error of metabolism, such as an organic acidemia or urea cycle defect, is suspected in a critically ill infant, ... Inborn errors of metabolism should always be considered in the differential diagnosis. It is common for an infant to be ...
Burton BK (1998) Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 102(6):E69CrossRefPubMedGoogle ... Inborn errors of metabolism (IEMs) are inherited disorders typically caused by recessive mutations in genes encoding metabolic ... Lanpher B, Brunetti-Pierri N, Lee B (2006) Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev ... Representative examples of clinically relevant findings for each inborn error of metabolism evaluated in this study. Each dot ...
Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of ... For further information on inborn errors of glucose metabolism and inborn errors of glycogen metabolism see below. Lactose is a ... The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism ... Carbohydrate metabolism. Medical Genetics. 3rd edition. Chapter 7. Biochemical genetics:Disorders of metabolism. pp139-142. ...
Make research projects and school reports about Inborn errors of metabolism easy with credible articles from our FREE, online ... and pictures about Inborn errors of metabolism at Encyclopedia.com. ... Inborn Errors of Metabolism. Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the ... inborn errors of metabolism See genetic disease. Cite this article Pick a style below, and copy the text for your bibliography ...
Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. ... Stem Cell Transplant for Inborn Errors of Metabolism. The safety and scientific validity of this study is the responsibility of ... Metabolism, Inborn Errors. Adrenoleukodystrophy. Pick Disease of the Brain. Aphasia, Primary Progressive. Frontotemporal ... Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation. ...
People who have Inborn Errors of Metabolism (IEM) - Amino Acid cannot break down specific amino acids in protein. They are ... Metabolic Dietary Disorders Association needs your help with "Tony Abbott, Sussan Ley: Reinstate the Inborn Error of Metabolism ... Metabolic Dietary Disorders Association needs your help with "Tony Abbott, Sussan Ley: Reinstate the Inborn Error of Metabolism ... Tony Abbott, Sussan Ley: Reinstate the Inborn Error of Metabolism (IEM) Food Grant ...
Inborn Errors of Metabolism. Inborn Errors of Metabolism. This Section links groups led by international experts who specialise ... in inherited rare diseases arising from disorders of metabolism and specific organelles, covering the full translational ...
The first inborn errors of metabolism, which have been described in the beginning of the 20th century by Sir Archibald Garrod, ... Several classic inborn errors of metabolism can be detected by the accumulation of certain amino acids as metabolites in body ... Inborn errors of metabolism are caused by changes in specific enzymatic reactions and hundreds of different such alterations, ... enzyme and metabolite tests from a single patient sample are needed for the efficient diagnosis of inborn errors of metabolism ...
Several inborn errors of metabolism can present in the neonatal period (usually not present at birth) with features similar to ... Which inborn errors of metabolism should be included in the differential diagnoses for hypoxic-ischemic encephalopathy (HIE)?. ... Several inborn errors of metabolism can present in the neonatal period (usually not present at birth) with features similar to ... Inborn errors of metabolism masquerading as hypoxic-ischemic encephalopathy. Neoreviews. 2005. 6(12):e549-e558. [Full Text]. ...
Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism. ... and cultivated amniotic fluid cells have all been utilized in the prenatal diagnosis of inborn errors of metabolism, and, given ... Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism. In: Milunsky A. (eds) ... Amniotic Fluid Prenatal Diagnosis Inborn Error Pompe Disease Metachromatic Leukodystrophy This is a preview of subscription ...
Volume 9 of Inborn Errors of Metabolism in Man, Inborn Errors of Metabolism in Man. Inborn errors of metabolism in man: first ... Inborn errors of metabolism in man: first International Symposium on Inborn Errors of Metabolism in Man, Tel Aviv, June 19-25, ... Inborn errors of metabolism in man: first International Symposium on Inborn Errors of Metabolism in Man, Tel Aviv, June 19-25, ... Karger, 1978 - Metabolism, Inborn errors of. 0 Reviewshttps://books.google.com/books/about/Inborn_errors_of_metabolism_in_man. ...
The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best ... The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians ... Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass ... contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism ...
Focused Drug Development for neurologic manifestations of inborn errors of metabolism. Patient-Focused Drug Development is part ... For most inborn errors of Start Printed Page 22995metabolism, a cure does not exist, and treatment focuses on prevention and ... Inborn errors of metabolism include a range of genetic disorders in which the body has an enzyme deficiency, which causes ... For context, please indicate if you are commenting on behalf of a child or loved one who has an inborn error of metabolism. If ...
Fructose metabolism, inborn errors inherited abnormalities of fructose metabolism, which include three known autosomal ... Retrieved from "https://www.biology-online.org/dictionary/index.php?title=Fructose_metabolism_inborn_errors&oldid=57723" ...
In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental ... to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and ... developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. ... Brain Diseases, Metabolic, Inborn / pathology*. Corpus Callosum / abnormalities*, pathology. Female. Humans. Magnetic Resonance ...
Lesch-Nyhan Syndrome / genetics*, metabolism, physiopathology. Male. Purine-Pyrimidine Metabolism, Inborn Errors / genetics*, ... 9211189 - The recognition of lesch-nyhan syndrome as an inborn error of purine metabolism.. 3388639 - Acute acid load in ...
ED-emergency department • IEM-inborn error of metabolism • PRISA II-Pediatric Risk of Admission II. REFERENCES. *↵. Institute ... inborn errors of metabolism. The Institute of Medicine has identified timeliness and effectiveness as 2 important components of ... Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism. Dina J. Zand, ... Prompt and effective care is crucial for patients with inborn errors of metabolism because delays may result in poor outcomes, ...
A Japanese study sought to determine the association between ALTE and inborn errors of metabolism, particularly organic ... The majority of the infants in this study group with subsequently identified inborn error of metabolism had a history of poor ... What are the signs and symptoms of inborn errors of metabolism in brief resolved unexplained events (BRUEs) (apparent life- ... A Japanese study sought to determine the association between ALTE and inborn errors of metabolism, particularly organic ...
ERYtech Pharma To Present Pre-Clinical Data At The 13th International Congress Of Inborn Errors Of Metabolism - read this ... ERYtech Pharma To Present Pre-Clinical Data At The 13th International Congress Of Inborn Errors Of Metabolism. Published: Sep ... Congress of Inborn Errors of Metabolism (ICIEM), being held September 5 - 8, 2017 in Rio De Janeiro, Brazil. ... critical for methionine metabolism. Patients are unable to fully metabolize the amino acid methionine, an essential amino acid ...
Different therapeutic principles can improve clinical outcome in patients suffering from inborn errors of metabolism (IEM). ... Das A.M., Illsinger S. (2018) Pharmacological Therapy in Inborn Errors of Metabolism. In: Hock F., Gralinski M. (eds) Drug ... Different therapeutic principles can improve clinical outcome in patients suffering from inborn errors of metabolism (IEM). ...
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. ... Inborn Errors Metabolisms; Inborn Metabolism Error; Inborn Metabolism Errors; Metabolism Error, Inborn; Metabolism Inborn Error ... Inborn Errors of Metabolism; Metabolism Inborn Errors; Metabolism, Inborn Errors; Metabolism Errors, Inborn; Error, Inborn ... Inborn Errors Metabolism (Inborn Errors of Metabolism). Subscribe to New Research on Inborn Errors Metabolism ...
What is inborn error of metabolism? Meaning of inborn error of metabolism medical term. What does inborn error of metabolism ... Looking for online definition of inborn error of metabolism in the Medical Dictionary? inborn error of metabolism explanation ... Inborn error of metabolism. A rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes ... inborn. congenital; inherited or acquired before birth.. inborn error of metabolism. congenital disorders of metabolism. ...
HERBERT V. Inborn Errors in Folate Metabolism-A Cause of Mental Retardation?. Ann Intern Med. ;68:956-958. doi: 10.7326/0003- ... Inborn Errors in Folate Metabolism-A Cause of Mental Retardation? VICTOR HERBERT, M.D. ...
  • The errors of lipid metabolism consist chiefly of the sphingolipidoses, of which the most familiar are Tay-Sachs disease (and its variants), Niemann-Pick disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, and Fabry disease. (jamanetwork.com)
  • Phenylketonuria (PKU) is the most common disorder of amino acid metabolism. (encyclopedia.com)
  • inborn error of metabolism a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth, as in phenylketonuria, or in later life. (thefreedictionary.com)
  • effects are ascribable to accumulation of the substrate on which the enzyme normally acts (for example, phenylketonuria), to deficiency of the product of the enzyme (for example, albinism), or to forcing metabolism through an auxiliary pathway (for example, oxaluria). (thefreedictionary.com)
  • Kinds of inborn errors of metabolism include galactosemia , glucose-6-phosphate dehydrogenase deficiency , Lesch-Nyhan syndrome , phenylketonuria, and Tay-Sachs disease . (thefreedictionary.com)
  • Phenylketonuria, a disorder of phenylalanine metabolism, leads to intellectual disability if untreated. (aappublications.org)
  • Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. (enacademic.com)
  • Phenylketonuria is a group of inherited disorders of phenylalanine metabolism caused by impaired phenylulanine hydroxylase activity. (nutrizapp.com)
  • In the cohort screened with tandem mass spectrometry, the prevalence of inborn errors, excluding phenylketonuria, was 15.7 per 100,000 births (95 percent confidence interval, 11.9 to 20.4), as compared with adjusted rates of 8.6 to 9.5 per 100,000 births in the four preceding four-year cohorts. (cdc.gov)
  • Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. (wikipedia.org)
  • Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates. (wikipedia.org)
  • Galactosemia, the inability to metabolize galactose in liver cells, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns. (wikipedia.org)
  • Hypoglycaemia and its associated symptoms such as lethargy or seizures may be a presenting feature in disorders of carbohydrate metabolism or fatty oxidation. (patient.info)
  • Patients with severe errors in carbohydrate metabolism present early (typically in the neonatal period) and catastrophically. (statpearls.com)
  • Disorders of carbohydrate metabolism are a heterogeneous group caused by the inability to metabolize specific sugars, aberrant glycogen synthesis, or disorders of gluconeogenesis. (medgenome.com)
  • Ibrahim M, Parmar HA, Hoefling N, Srinivasan A (2014) Inborn errors of metabolism: combining clinical and radiologic clues tosolve the mystery. (springer.com)
  • A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. (aappublications.org)
  • The number, complexity, and varied clinical presentation of inborn errors of metabolism present a formidable challenge to the practicing pediatrician. (aappublications.org)
  • The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. (scimagojr.com)
  • The goal was to measure the effectiveness of a clinical pathway for the emergency department care of patients with inborn errors of metabolism. (aappublications.org)
  • Two years after the implementation of a multidisciplinary clinical pathway for patients with inborn errors of metabolism in our urban, academic, pediatric emergency department, we compared measures of timeliness and effectiveness for patients treated before the pathway with the same measures for patients treated after implementation of the pathway. (aappublications.org)
  • Therefore, a clinical pathway can improve the emergency care of patients with inborn errors of metabolism. (aappublications.org)
  • Different therapeutic principles can improve clinical outcome in patients suffering from inborn errors of metabolism (IEM). (springer.com)
  • We sought to determine if KL-6 is a useful biomarker in differentiating neuroendocrine cell hyperplasia of infancy (NEHI), a benign form of children's interstitial lung disease, from the more severe inborn errors of surfactant metabolism (IESM), since their clinical presentation can be similar. (bmj.com)
  • The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement disorders, and cognitive disturbances. (uzh.ch)
  • Some clinical presentations are more likely than others to point to an inborn error of metabolism as the cause of seizures. (uzh.ch)
  • BARCELONA, Spain - September 4, 2013 - At the 12th International Congress of Inborn Errors of Metabolism (www.iciem2013.com), Bruker announces another milestone in the cost-effective use of NMR (nuclear magnetic resonance) spectroscopy screening as a clinical research tool for metabolic screening and small molecule in vitro diagnostics (IVD) research and validation. (bruker.com)
  • The novel Inborn Errors of Metabolism (IEM) screening assay was successfully demonstrated during a clinical study in Turkey, in which over 1,000 newborn babies were screened by NMR in an effort to establish a method for a non-invasive, efficient and reliable assessment of absolute and relative metabolite concentrations in newborns, allowing pediatricians to assess their health, and to detect a multitude of inborn metabolic errors simultaneously. (bruker.com)
  • Dried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/MS. The screening results were further confirmed by clinical symptoms and biochemical analysis in combination with the detection of neonatal deficiency in organic acid, amino acid, or fatty acid metabolism and DNA analysis. (biomedcentral.com)
  • List the primary clinical findings of inborn errors of metabolism associated with encephalopathy without metabolic acidosis. (aappublications.org)
  • An understanding of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis. (medscape.com)
  • This article summarizes the gene transfer strategies being investigated, the pre-clinical data, and the available early clinical results for inborn errors of liver metabolism. (biomedcentral.com)
  • Inborn errors of metabolism are genetic disorders that hamper the body s metabolism resulting in severe clinical manifestations. (medindia.net)
  • It has quickly become an in-depth clinical reference resource for inborn errors of metabolism and pediatric endocrinology. (mhmedical.com)
  • Earlier recognition of inborn errors of metabolism has the potential to reduce morbidity and mortality rates in affected infants. (aafp.org)
  • Detection of inborn errors of metabolism: galactosemia. (nih.gov)
  • Jaundice or other evidence of hepatic dysfunction is the mode of presentation of another important group of inborn errors of metabolism including galactosemia, hereditary tyrosinemia, neonatal hemochromatosis, and a number of other conditions. (aappublications.org)
  • Galactosemia - A Not to be Missed Inborn Error of Metabolism. (who.int)
  • Global metabolic profiling currently achievable by untargeted mass spectrometry-based metabolomic platforms has great potential to advance our understanding of human disease states, including potential utility in the detection of novel and known inborn errors of metabolism (IEMs). (metabolon.com)
  • Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled. (medlineplus.gov)
  • Several inborn errors of metabolism can present in the neonatal period (usually not present at birth) with features similar to HIE. (medscape.com)
  • Neurologists, pediatricians and internists should cooperate with cardiologists in managing people with unexplained cardiac symptoms and signs and be aware that several inborn errors of metabolism are associated with cardiac abnormalities and mild neurologic findings. (ru.nl)
  • Several inborn errors of metabolism cause developmental delays Homepage Department of Health and Human Services National Institutes of metabolism due to a deficiency of mitochondrial sterol 27-hydroxylase. (usedtech.org)
  • Therefore, a risk/benefit assessment could make gene therapy an acceptable option for several inborn errors of metabolism. (biomedcentral.com)
  • In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). (hindawi.com)
  • Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. (aappublications.org)
  • Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. (aappublications.org)
  • It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. (biomedsearch.com)
  • The objectives of the present study were to determine the prevalence of developmental defects of the corpus callosum in patients attending a genetics-metabolic disorders clinic, to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and abnormalities of the corpus callosum as ascertained by neuroimaging and/or postmortem studies. (biomedsearch.com)
  • In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental defects within the nervous system. (biomedsearch.com)
  • Most classical inborn errors are defects in the enzymes that break down amino acids, so stopping the body from breaking down its own proteins is an important goal of initial treatment--and this is done by giving intravenous glucose. (healthtap.com)
  • Defects in the urea cycle such as ornithine transcarbamylase deficiency, argininosuccinic metabolism on prenatal and neonatal development. (usedtech.org)
  • Tandem mass spectrometry in newborn screening allows earlier identification of inborn errors of metabolism in asymptomatic persons. (aafp.org)
  • Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM). (biomedcentral.com)
  • The advent of electrospray-ionization mass spectrometry (ESI-MS) has given rise to expanded newborn screening programs for the early detection of inborn errors of metabolism (IEM). (nih.gov)
  • Why is expanded newborn screening so important for detecting inborn errors of metabolism? (pulmonologyadvisor.com)
  • What causes many inborn errors of metabolism to develop in the newborn period? (pulmonologyadvisor.com)
  • Methods Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism - Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed. (umn.edu)
  • Inborn error of metabolism (IME) with an overall incidence of 1/2000 population represent a common cause of diseases in newborn period. (ac.ir)
  • Asymptomatic neonates with newborn screening results positive for an inborn error of metabolism may require emergent evaluation including confirmatory testing and, as appropriate, initiation of disease-specific management. (medscape.com)
  • The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. (cdc.gov)
  • Although there are detailed entries in StatPearls for specific inborn errors of metabolism, it is helpful to understand these diseases as a whole. (statpearls.com)
  • 1 Prompt effective care is crucial for patients with inborn errors of metabolism (IEMs) who present with seemingly minor illnesses, because delays may result in poor outcomes, including severe metabolic acidosis, hyperammonemia, cerebral edema, and death. (aappublications.org)
  • In the IEM screening study in Turkey, the targeted method was optimized to deliver the automatic quantification of 65 relevant urinary metabolites, including 20 endogenous metabolites connected to general health state and 45 metabolites indicative for inborn errors of metabolism, allowing to screen for 49 IEMs on newborns, as several markers appear in more than one disease, but with different co-biomarkers. (bruker.com)
  • Inborn errors of metabolism (IEMs) comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting in either accumulation of substrate behind the block or deficiency of the product. (patient.info)
  • Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. (medscape.com)
  • Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. (medlineplus.gov)
  • Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. (wikipedia.org)
  • The aim of this study was to elucidate genetic architecture of inborn errors of metabolism involving epilepsy or seizures and to evaluate their diagnostic approaches. (springer.com)
  • JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening. (scimagojr.com)
  • Classical homocystinuria is a rare, inherited genetic disease caused by a deficiency in the enzyme cystathionine beta-synthase (CBS), which is critical for methionine metabolism. (biospace.com)
  • Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (curehunter.com)
  • That's often the case with inborn errors of metabolism (IEM), defined as rare genetic disorders that cause alterations or deficiencies in enzymes involved in metabolism, and other rare diseases. (metabolon.com)
  • In the specific context of i. error of metabolism, it connotes a genetic disruption of an enzyme. (enacademic.com)
  • We included studies on idiopathic and genetic forms of dystonia as well as dystonia secondary to cerebral palsy and inborn errors of metabolism. (readbyqxmd.com)
  • Crigler-Najjar syndrome (CNS, OMIM: 218800) is the paradigm of an inborn error of metabolism and a rare genetic disease with an estimated incidence of 0.6-1.0 per million live births. (readbyqxmd.com)
  • Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (ucdenver.edu)
  • Inborn Errors of Metabolism (IEM) comprise a group of disorders in which a genetic defect causes a clinically significant block in a metabolic pathway. (medgenome.com)
  • Inborn errors of metabolism (IEM) are a large group of rare genetic diseases, including any condition in which the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. (uam.es)
  • Persistent vomiting in infancy with no clear explanation should raise suspicion of IEM, possibly a defect of protein metabolism. (patient.info)
  • Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. (tripdatabase.com)
  • Each of those designations refers to a different complementation group and to a defect in cobalamin metabolism caused by mutations in the gene identified for this particular complementation group (Fowler et al. (uzh.ch)
  • Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. (aappublications.org)
  • Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors. (aappublications.org)
  • It is therefore incumbent on the pediatrician to be familiar with the major signs and symptoms of inborn errors of metabolism and with the basic laboratory studies necessary to arrive at an initial diagnosis. (aappublications.org)
  • This Section links groups led by international experts who specialise in inherited rare diseases arising from disorders of metabolism and specific organelles, covering the full translational pathway from diagnosis, genotype-phenotype correlation, disease mechanism to therapeutic development. (ucl.ac.uk)
  • Simultaneous enzyme and metabolite tests from a single patient sample are needed for the efficient diagnosis of inborn errors of metabolism in an individual. (sigmaaldrich.com)
  • The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. (aafp.org)
  • Knowledge of important findings at examination, and appropriate biochemical investigation of children with seizures of uncertain cause, can aid the diagnosis of an inborn error of metabolism and ascertain whether or not the seizures are amenable to specific metabolic treatment. (uzh.ch)
  • This paper also explores the key role of cardiac manifestations in the diagnosis of inborn errors of metabolism in daily practice. (ru.nl)
  • RESULTS: In 15 out of the 41 patients a diagnosis of inborn errors of metabolism was established, while the total number of patients with inborn errors of metabolism was 60 out of the 287. (ru.nl)
  • CONCLUSION: The cardiac findings consist of a neglected area in the diagnosis of the inborn errors of metabolism. (ru.nl)
  • One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. (elitmed.hu)
  • Significant advances in the diagnosis and treatment of inborn errors of metabolism have occurred in recent years. (biomedcentral.com)
  • This book is designed as a source of practical information for the diagnosis and management of pediatric patients with endocrine diseases and inborn errors of metabolism. (mhmedical.com)
  • Inborn errors of metabolism are defined as abnormalities of the synthesis, transport, or turnover of nutritional and cellular compounds. (frontalcortex.net)
  • Patients with severe errors in excretion pathways will present typically with intoxication, with lethargy and altered mental status, seizures, vomiting, and vital sign abnormalities. (statpearls.com)
  • Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. (jamanetwork.com)
  • Infants and children with treatable errors of metabolism can be identified by screening newborns for meaningful metabolite biomarkers. (sigmaaldrich.com)
  • Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. (aafp.org)
  • Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India. (umassmed.edu)
  • This resulted in the reproducibility of the method for the measurement of key IEM metabolites in patient samples across multiple analytical batches, proving the method to be robust and reproducible for the screening of patients with previously undiagnosed inborn errors of metabolism. (metabolon.com)
  • SAGE today announced that it will publish The Journal of Inborn Errors of Metabolism and Screening (JIEMS), a new open access, online-only journal in 2013, with manuscripts being accepted in mid-April. (stm-publishing.com)
  • JIEMS will be the official journal of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening (SLEIMPN). (stm-publishing.com)
  • This partnership between SLEIMPN and SAGE will fill a gap in the field of metabolic diseases, as the new journal will offer to the international research community an open-access alternative for the scientific communication in the area of inborn errors of metabolism and screening. (stm-publishing.com)
  • Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism', Iranian Journal of Neonatology IJN , 5(4), pp. 11-14. (ac.ir)
  • The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare inborn errors of metabolism, but the efficacy and outcomes of screening remain unknown. (cdc.gov)
  • More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically. (cdc.gov)
  • In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. (genome.gov)
  • Several classic inborn errors of metabolism can be detected by the accumulation of certain amino acids as metabolites in body fluids like serum and urine. (sigmaaldrich.com)
  • The study has successfully demonstrated the ability to quantify simultaneously 45 metabolites occurring in 49 different types of inborn errors of metabolism in neonates at clinically relevant metabolite concentrations. (bruker.com)
  • Inborn errors of metabolism are rare diseases that often provide a typical pattern of elevated metabolites in biological fluids like urine, blood (plasma or serum) or cerebrospinal fluid. (bruker.com)
  • Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition 2nd Edition by Kyriakie Sarafoglou and Publisher McGraw-Hill Education / Medical. (vitalsource.com)
  • Pediatric Endocrinology and Inborn Errors of Metabolism, 2e Sarafoglou K, Hoffmann GF, Roth KS. (mhmedical.com)
  • From its conception, Pediatric Endocrinology and Inborn Errors of Metabolism (PEIEM) was created with this dual purpose: to be both a comprehensive, clinically-focused medical reference for a broad audience from specialist nurses and general physicians to specialists in each discipline, and to be an information bridge providing inroads into the fundamental concepts of the two interrelated disciplines. (mhmedical.com)
  • A total of 214 emergency department visits for patients with inborn errors of metabolism were analyzed, 90 before and 124 after initiation of the pathway. (aappublications.org)
  • Most measures of timeliness and 2 measures of effectiveness showed improvement after implementation of an emergency department pathway for patients with inborn errors of metabolism. (aappublications.org)
  • AIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism. (ru.nl)
  • Most inborn errors of metabolism are inherited as autosomal recessive traits or, as in the case of ornithine transcarbamylase deficiency, are X-linked. (aappublications.org)
  • Thiamine pyrophosphokinase (TPK) deficiency causing episodic encephalopathy type thiamine metabolism dysfunction is the most recently discovered thiamine-responsive inborn error of metabolism, with only five patients previously described in the literature. (ommbidblog.com)
  • Abstract Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. (rice.edu)
  • METHODS: Out of the 287 patients with the potential for inborn errors of metabolism who had been referred to the University Hospital of Heraklion (202 children and adolescents and 85 adults), 41 were found to have a variety of cardiac manifestations, including cardiomyopathy, cardiomegaly, atrioventricular conduction disorders and coronary artery disease. (ru.nl)
  • Three autosomal recessive disorders impair fructose metabolism in liver cells. (wikipedia.org)
  • Inborn errors of amino acid metabolism are chiefly inherited as autosomal recessive conditions. (medassignments.com)
  • The failure to effectively use these molecules accounts for the majority of the inborn errors of human carbohydrates metabolism. (wikipedia.org)
  • Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food ( carbohydrates , proteins , and fats). (encyclopedia.com)
  • Patients with errors in pathways involved in accessing stored energy may appear well for prolonged periods of time and can be asymptomatic as long as they have an ongoing intake of carbohydrates. (statpearls.com)
  • Organic acidemias are caused by abnormal metabolism of proteins, fats, or carbohydrates. (medgenome.com)
  • What are the signs and symptoms of inborn errors of metabolism in brief resolved unexplained events (BRUEs) (apparent life-threatening events) (ALTEs)? (medscape.com)
  • The majority of the infants in this study group with subsequently identified inborn error of metabolism had a history of poor feeding and somnolence during the neonatal period, and symptoms of infection such as cough, fever or vomiting precipitating an acute metabolic crisis manifesting as an ALTE. (medscape.com)
  • Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. (elitmed.hu)
  • A Japanese study sought to determine the association between ALTE and inborn errors of metabolism, particularly organic acidemia and fatty acid oxidation disorders. (medscape.com)
  • Among these 56 newborns, 19 (1:5267) had amino acid metabolism disorders, 26 (1:3849) had organic acid metabolism disorders, and 11 (1:9098) had fatty acid oxidation disorders. (biomedcentral.com)
  • Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. (ru.nl)
  • The IEM are caused by mutations (or alterations) in the genes that tell our cells how to make the enzymes and the co-factors for metabolism. (genome.gov)
  • After extensive search, 880 human genes were identified with a considerable part, 373 genes (42%), associated with inborn errors of metabolism. (springer.com)
  • Extensive list of 373 epilepsy- or seizures-associated inborn errors of metabolism genes may be of value in development of gene panels and as a tool for variants' filtration. (springer.com)
  • In the inborn errors of metabolism, the genes that code for these enzymes are mutated and the enzymes do not work right causing food ingredients to build up in the body to poisonous levels. (healthtap.com)
  • Inborn errors of metabolism are inherited disorders caused by mutations in genes coding for proteins that function in metabolism. (statpearls.com)
  • Environmental, epigenetic, and microbiome factors and additional genes are potential modifying etiologic factors in those with inborn errors of metabolism. (statpearls.com)
  • Ever since the Hannah Poling case became public, and especially give the way in which David Kirby has presented the case, there has been a question of whether vaccines can cause regressions in children with inborn errors of metabolism (mitochondrial disorders are a subset of these). (leftbrainrightbrain.co.uk)
  • Following are some articles describing some aspects of the Inborn errors of metabolism in Lebanon, the mitochondrial diseases are until now the most common of the inborn errors of Metabolism in my country. (hichammansour.com)
  • Molecular Genetics and Metabolism , 119 (1-2), 75-82. (umn.edu)
  • Inborn Errors of Bile Acid Metabolism. (nih.gov)
  • Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. (nih.gov)
  • Here is the abstract from a study presented 2009 Infectious Diseases Society of America titled, Evaluation of Immunization Rates and Safety Among Children with Inborn Errors of Metabolism . (leftbrainrightbrain.co.uk)
  • Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. (wikipedia.org)
  • The Metabolic Dietary Disorders Association ( MDDA ) - the national patient support group for families living with an Inborn Error of Metabolism (IEM) - has been advised by the Department of Health today that the IEM food grant (a grant supporting individuals living with rare metabolic diseases) will finish in December 2015 and will no longer be funded by the government. (change.org)
  • Inborn errors of metabolism are caused by changes in specific enzymatic reactions and hundreds of different such alterations, which affect about 1 of every 5000 newborns, have been characterized. (sigmaaldrich.com)
  • Moreover, in addition to the metabolic concentrations for the targeted 49 inborn errors of metabolism, the information-rich, multi-parameter, simultaneous IEM-by-NMR assessment also delivers a non-targeted general metabolic overview of normal health of newborns, including metabolic deviations from normality, and important outlier information, which may suggest pediatric follow-up or longitudinal NMR monitoring of certain newborns. (bruker.com)
  • In India, the prevalence of Inborn errors of metabolism (IEM) is 1 in 2,497 newborns. (medgenome.com)
  • Inborn errors of metabolism (IEM) are an important cause of acute illness in newborns. (who.int)
  • We would like to make clear that many other similar high-quality research and service centers working on rare diseases, including on inborn errors of metabolism, exist around the country. (biomedcentral.com)
  • Describe common ocular findings associated with inborn errors of metabolism. (aappublications.org)
  • Accessed: Das AM. The typical laboratory findings in each condition or group of Inborn Errors Of Metabolism Made Easy the sick neonate. (usedtech.org)
  • An underlying inborn errors of metabolism may be a treatable cause of autism. (elitmed.hu)
  • The most common is caused by mutations in the gene encoding hepatic fructokinase, an enzyme that catalyzes the first step in the metabolism of dietary fructose. (wikipedia.org)
  • The particular enzyme absence or inactivity for each inborn error of metabolism dictates which components are restricted and which are supplemented. (encyclopedia.com)
  • Although all these presentations exist on a spectrum depending upon degree and type of enzyme involvement, inborn errors of metabolism have some common features. (statpearls.com)
  • In 4/2015 he went back to the University Clinic of Heidelberg and established under the supervision of Prof. Dr. Georg Hoffmann and Prof. Dr. Peter Nawroth the adult outpatient clinic for rare metabolic disorders (up to12/2017).In 2018 he founded a private company for "Metabolic Consulting and Research" to further support knowledge and research in inborn errors of metabolism. (bruker.com)
  • The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. (aafp.org)
  • Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. (aafp.org)
  • The study concluded that when ALTE is encountered in the emergency unit, samples such as urine, serum, and filter paper blood specimens should be considered for tandem mass spectrometry of organic acids and acylcarnitines, to identify inborn metabolic disorders. (medscape.com)
  • Metabolic profiling of amino acids and acylcarnitines from blood spots by automated electrospray tandem mass spectrometry (ESI-MS/MS) is a powerful diagnostic tool for inborn errors of metabolism. (aaccjnls.org)
  • People who have Inborn Errors of Metabolism (IEM) - Amino Acid cannot break down specific amino acids in protein. (change.org)
  • Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. (readbyqxmd.com)
  • however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. (hindawi.com)
  • Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. (hindawi.com)
  • As energy demand of these muscle tissues varies by several orders of magnitude, energy metabolism has to be tightly regulated in order to meet varying energy requirement. (hindawi.com)
  • In this review, we shall first describe the physiology of energy metabolism in muscle, and then deal with different myopathies caused by inborn errors of energy metabolism. (hindawi.com)
  • In contrast to liver glycogen, muscle glycogen does not serve glucose homeostasis in the body but is almost exclusively used for energy metabolism in muscle itself. (hindawi.com)
  • The most numerous group comprised disorders of energy metabolism (115, 31% of all inborn errors of metabolism). (springer.com)
  • Nominations such as cblA- cblG and cblJ do not refer to special forms of cobalamin, but to enzymes and transport proteins involved in intracellular cobalamin metabolism. (uzh.ch)
  • Many inborn errors of metabolism may present with epilepsy or seizures, however, current scope of these diseases is unknown. (springer.com)
  • The list of diseases caused by an inborn error of metabolism is very long, indeed. (healthtap.com)
  • Because of all these factors, although medical professionals often think about inborn errors of metabolism as diseases of the neonatal period, 50% of all inborn errors present outside of the neonatal period, and some are not diagnosed until adulthood. (statpearls.com)
  • Diseases that result in errors of metabolizing and breaking down food will often cause hypoglycemia. (statpearls.com)
  • Diagnosing inborn errors of metabolism in muscle manifesting as exercise intolerance and in excess glycogen storage. (usedtech.org)
  • The first inborn errors of metabolism, which have been described in the beginning of the 20th century by Sir Archibald Garrod, dealt with alkaptonuria, pentosuria, cystinuria and albinism. (sigmaaldrich.com)
  • Cystinuria is an inborn error of metabolism associated with a 'sulfur' smell in the urine. (frontalcortex.com)
  • The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. (biomedsearch.com)
  • Purine-Pyrimidine Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • This graph shows the total number of publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in this website by year, and whether "Purine-Pyrimidine Metabolism, Inborn Errors" was a major or minor topic of these publications. (umassmed.edu)
  • Below are the most recent publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in Profiles. (umassmed.edu)