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.
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.
Amino acids which have a branched carbon chain.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Amino acids that are not synthesized by the human body in amounts sufficient to carry out physiological functions. They are obtained from dietary foodstuffs.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.
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.
Amino acids containing an aromatic side chain.
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.
The dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.
Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
The chemical reactions involved in the production and utilization of various forms of energy in cells.
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)
An essential branched-chain amino acid important for hemoglobin formation.
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.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.
An element with the atomic symbol N, atomic number 7, and atomic weight [14.00643; 14.00728]. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The systematic identification and quantitation of all the metabolic products of a cell, tissue, organ, or organism under varying conditions. The METABOLOME of a cell or organism is a dynamic collection of metabolites which represent its net response to current conditions.
A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A sulfur-containing essential L-amino acid that is important in many body functions.
A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
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.
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.
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.
The rate dynamics in chemical or physical systems.
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.
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.
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.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.
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 subclass of enzymes of the transferase class that catalyze the transfer of an amino group from a donor (generally an amino acid) to an acceptor (generally a 2-keto acid). Most of these enzymes are pyridoxyl phosphate proteins. (Dorland, 28th ed) EC 2.6.1.
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)
Proteins found in any species of bacterium.
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).
A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Proteins obtained from foods. They are the main source of the ESSENTIAL AMINO ACIDS.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
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).
An essential branched-chain aliphatic amino acid found in many proteins. It is an isomer of LEUCINE. It is important in hemoglobin synthesis and regulation of blood sugar and energy levels.
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.
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.
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 essential amino acid that is physiologically active in the L-form.
Cellular proteins and protein complexes that transport amino acids across biological membranes.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
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.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.
The protein complement of an organism coded for by its genome.
One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
An amino acid produced in the urea cycle by the splitting off of urea from arginine.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.
Elements of limited time intervals, contributing to particular results or situations.
Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.
A group of compounds that are derivatives of the amino acid 2-amino-2-methylpropanoic acid.
An infant during the first month after birth.
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).
The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.
A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
A series of oxidative reactions in the breakdown of acetyl units derived from GLUCOSE; FATTY ACIDS; or AMINO ACIDS by means of tricarboxylic acid intermediates. The end products are CARBON DIOXIDE, water, and energy in the form of phosphate bonds.
Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
The relationships of groups of organisms as reflected by their genetic makeup.
The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.
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).
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
Derivatives of GLUTAMIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the 2-aminopentanedioic acid structure.
Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
An unsaturated, essential fatty acid. It is found in animal and human fat as well as in the liver, brain, and glandular organs, and is a constituent of animal phosphatides. It is formed by the synthesis from dietary linoleic acid and is a precursor in the biosynthesis of prostaglandins, thromboxanes, and leukotrienes.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
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 and EC
A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
An essential amino acid. It is often added to animal feed.
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.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The amounts of various substances in food needed by an organism to sustain healthy life.
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)
Proteins prepared by recombinant DNA technology.
The pattern of GENE EXPRESSION at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.
An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.
A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.
The functional hereditary units of BACTERIA.
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.
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
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.
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.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations or by parent x offspring matings carried out with certain restrictions. This also includes animals with a long history of closed colony breeding.
The stonecrop plant family of the order ROSALES, subclass Rosidae, class Magnoliopsida that grow in warm, dry regions. The leaves are thick. The flower clusters are red, yellow, or white.
Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.
Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
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.
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.
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.
A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.
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 subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
Electrophoresis in which a second perpendicular electrophoretic transport is performed on the separate components resulting from the first electrophoresis. This technique is usually performed on polyacrylamide gels.
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)
A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.
The systematic study of the complete complement of proteins (PROTEOME) of organisms.
This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
A ketone oxidoreductase that catalyzes the overall conversion of alpha-keto acids to ACYL-CoA and CO2. The enzyme requires THIAMINE DIPHOSPHATE as a cofactor. Defects in genes that code for subunits of the enzyme are a cause of MAPLE SYRUP URINE DISEASE. The enzyme was formerly classified as EC
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.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.
Established cell cultures that have the potential to propagate indefinitely.
Contractile tissue that produces movement in animals.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
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.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
Any of various animals that constitute the family Suidae and comprise stout-bodied, short-legged omnivorous mammals with thick skin, usually covered with coarse bristles, a rather long mobile snout, and small tail. Included are the genera Babyrousa, Phacochoerus (wart hogs), and Sus, the latter containing the domestic pig (see SUS SCROFA).
Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.
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).
The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
An element that is a member of the chalcogen family. It has an atomic symbol S, atomic number 16, and atomic weight [32.059; 32.076]. It is found in the amino acids cysteine and methionine.
Any liquid or solid preparation made specifically for the growth, storage, or transport of microorganisms or other types of cells. The variety of media that exist allow for the culturing of specific microorganisms and cell types, such as differential media, selective media, test media, and defined media. Solid media consist of liquid media that have been solidified with an agent such as AGAR or GELATIN.
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)
Regular course of eating and drinking adopted by a person or animal.
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.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.
Lengthy and continuous deprivation of food. (Stedman, 25th ed)
A multifunctional pyridoxal phosphate enzyme. In the final step in the biosynthesis of cysteine it catalyzes the cleavage of cystathionine to yield cysteine, ammonia, and 2-ketobutyrate. EC
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
Incorrect diagnoses after clinical examination or technical diagnostic procedures.
Abstaining from all food.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.
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)
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.
A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
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)
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.
The sum of the weight of all the atoms in a molecule.
Transport proteins that carry specific substances in the blood or across cell membranes.
An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins.
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.
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
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.
Glucose in blood.
A ZINC metalloenzyme that catalyzes the transfer of a methyl group from BETAINE to HOMOCYSTEINE to produce dimethylglycine and METHIONINE, respectively. This enzyme is a member of a family of ZINC-dependent METHYLTRANSFERASES that use THIOLS or selenols as methyl acceptors.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
Proteins found in any species of fungus.
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)
Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.
The processes whereby the internal environment of an organism tends to remain balanced and stable.
Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.
The unfavorable effect of environmental factors (stressors) on the physiological functions of an organism. Prolonged unresolved physiological stress can affect HOMEOSTASIS of the organism, and may lead to damaging or pathological conditions.
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.
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)
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
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 variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
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 non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
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.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
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)
Derivatives of ammonium compounds, NH4+ Y-, in which all four of the hydrogens bonded to nitrogen have been replaced with hydrocarbyl groups. These are distinguished from IMINES which are RN=CR2.
A condition of substandard growth or diminished capacity to maintain normal function.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.
Biochemical identification of mutational changes in a nucleotide sequence.
Anaerobic degradation of GLUCOSE or other organic nutrients to gain energy in the form of ATP. End products vary depending on organisms, substrates, and enzymatic pathways. Common fermentation products include ETHANOL and LACTIC ACID.
A tripeptide with many roles in cells. It conjugates to drugs to make them more soluble for excretion, is a cofactor for some enzymes, is involved in protein disulfide bond rearrangement and reduces peroxides.

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia. (1/411)

The development of gene-replacement therapy for inborn errors of metabolism has been hindered by the limited number of suitable large-animal models of these diseases and by inadequate methods of assessing the efficacy of treatment. Such methods should provide sensitive detection of expression in vivo and should be unaffected by concurrent pharmacologic and dietary regimens. We present the results of studies in a neonatal bovine model of citrullinemia, an inborn error of urea-cycle metabolism characterized by deficiency of argininosuccinate synthetase and consequent life-threatening hyperammonemia. Measurements of the flux of nitrogen from orally administered 15NH4 to [15N]urea were used to determine urea-cycle activity in vivo. In control animals, these isotopic measurements proved to be unaffected by pharmacologic treatments. Systemic administration of a first-generation E1-deleted adenoviral vector expressing human argininosuccinate synthetase resulted in transduction of hepatocytes and partial correction of the enzyme defect. The isotopic method showed significant restoration of urea synthesis. Moreover, the calves showed clinical improvement and normalization of plasma glutamine levels after treatment. The results show the clinical efficacy of treating a large-animal model of an inborn error of hepatocyte metabolism in conjunction with a method for sensitively measuring correction in vivo. These studies will be applicable to human trials of the treatment of this disorder and other related urea-cycle disorders.  (+info)

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. (2/411)

Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.  (+info)

B and T cell immunity in patients with lysinuric protein intolerance. (3/411)

Lysinuric protein intolerance (LPI) is characterized by defective cellular transport of the dibasic amino acids, secondary dysfunction of the urea cycle, aversion to dietary protein, failure to thrive, hepatosplenomegaly and osteoporosis. Because several patients have suffered from recurrent respiratory infections and/or severe generalized varicella, and a few have developed systemic lupus, vasculitis or other autoimmune diseases, we have now evaluated the function of patients' immune systems. Serum concentrations of one to three IgG subclasses were decreased in 10 of the 12 patients studied. Antibody titres against diphtheria, tetanus and Haemophilus influenzae (Hib) were below the detection limit of the assay in four, three and eight of the 11 patients examined, respectively. (Re)vaccination of these 11 patients led to satisfactory responses against tetanus, but two patients still failed to develop measurable antibodies against diphtheria, two against Hib and six against one or more of the three serotypes of 23-valent pneumococcus vaccine. The proportions of T cells of all lymphocytes and the proliferative responses of the peripheral blood mononuclear cells were normal. In conclusion, humoral immune responses in some patients with LPI are defective and these patients may benefit from intravenous immunoglobulin therapy.  (+info)

An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia. (4/411)

A 52-year-old heavy drinker presented with repeated episodes of disturbance of consciousness and an increase in serum ammonia level, triggered by excessive alcohol intake. He was diagnosed as having adult-onset citrullinemia with deficiency of hepatic argininosuccinate synthetase (ASS) activity. Cranial magnetic resonance imaging (MRI) showed high-intensity lesions in the central pons and the bilateral middle cerebellar peduncles on T2-weighted images. Although almost all cases of adult-onset citrullinemia have been reported to be enzymologically classified as type II, the serum amino acid pattern and serum level of human pancreatic secretory trypsin inhibitor (hPSTI) were atypical for type II in the present case.  (+info)

Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency. (5/411)

BACKGROUND: The mouse strain sparse fur with abnormal skin and hair (spf(ash)) is a model for the human ornithine transcarbamylase (OTC) deficiency, an X-linked inherited urea cycle disorder. The spf(ash) mouse carries a single base-pair mutation in the OTC gene that leads to the production of OTC enzyme at 10% of the normal level. MATERIALS AND METHODS: Recombinant adenoviruses carrying either mouse (Ad.mOTC) or human (Ad.hOTC) OTC cDNA were injected intravenously into the spf(ash) mice. Expression of OTC enzyme precursor and its translocation to mitochondria in the vector-transduced hepatocytes were analyzed on an ultrastructural level. Liver OTC activity and mitochondrial OTC concentration were significantly increased (300% of normal) in mice treated with Ad.mOTC and were moderately increased in mice receiving Ad.hOTC (34% of normal). The concentration and subcellular location of OTC and associated enzymes were studied by electron microscope immunolocalization and quantitative morphometry. RESULTS: Cytosolic OTC concentration remained unchanged in Ad.mOTC-injected mice but was significantly increased in mice receiving Ad.hOTC, suggesting a block of mitochondria translocation for the human OTC precursor. Mitochondrial ATPase subunit c [ATPase(c)] was significantly reduced and mitochondrial carbamy delta phosphate synthetase I (CPSI) was significantly elevated in spf(ash) mice relative to C3H. In Ad.mOTC-treated mice, the hepatic mitochondrial concentration of ATPase(c) was completely normalized and the CPSI concentration was partially corrected. CONCLUSIONS: Taken together, we conclude that newly synthesized mouse OTC enzyme was efficiently imported into mitochondria following vector-mediated gene delivery in spf(ash) mice, correcting secondary metabolic alterations.  (+info)

The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. (6/411)

Gamma-glutamylcysteine synthetase catalyzes the first step in glutathione synthesis. The enzyme consists of 2 subunits, heavy and light, with the heavy subunit serving as the catalytic subunit. A patient with hemolytic anemia and low red blood cell glutathione levels was found to have a deficiency of gamma-glutamylcysteine synthetase activity. Examination of cDNA from the patient and her mother showed that she was homozygous and that her mother was heterozygous for a A-->T transversion at nt1109 producing a deduced amino acid change of His370Leu. The partial genomic structure of the catalytic subunit of gamma-glutamylcysteine synthetase (GLCLC) was determined, providing some intron/exon boundaries to make it possible to sequence an affected part of the coding region from genomic DNA. The 1109A-->T mutation was not present in the DNA of 38 normal subjects. In the course of these studies we found a diallelic polymorphism in nt +206 of an intron and another polymorphism that consisted of a duplication of a CAGC at cDNA nt1972-1975 in the 3' untranslated region. The 2 polymorphisms were found to be only in partial linkage disequilibrium.  (+info)

Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator. (7/411)

Sparse fur with abnormal skin and hair (spf-ash) mice are deficient in ornithine carbamoyltransferase (OCT) activity, but their OCT protein is kinetically normal. We administered ammonium chloride to spf-ash mice, in order to analyze ammonia metabolism and to find a rationale for the therapy of OCT deficiency. Ammonia concentration in the liver of spf-ash mice increased to a level much higher than in the control. Ammonium chloride injection caused an increase in ornithine (Orn) 5 min after injection and an increase in the sum of Orn, citrulline (Cit) and arginine (Arg) for at least 15 min in the liver of control mice, but no increase in Orn, Cit and Arg in the liver of spf-ash mice. Treatment of spf-ash mice with Arg 5-20 min prior to the injection of ammonium chloride kept the hepatic ammonia concentration at a level comparable to that without the load. A significant reciprocal relationship between ammonia and Orn concentrations in the liver of spf-ash mice 5 min after an ammonium chloride load with or without Arg strongly suggests that ammonia disposal is dependent on the supply of Orn. In spf-ash mice loaded with tryptone as a nitrogen source, Arg supplementation showed a dramatic decrease in urinary orotic acid excretion in a dose-dependent manner. Similar effects were observed with Cit and Orn at the same dose, and a long-lasting effect with an ornithine aminotransferase inactivator, 5-(fluoromethyl)ornithine, at a much lower dose. The rate of urea formation in liver perfused with ammonium chloride was lower in spf-ash mice than in controls, but with the addition of Orn to the medium it increased to a similar level in control and spf-ash mice. These results indicate that OCT is not saturated with Orn in vivo under physiological conditions and that the administration or enrichment of the urea cycle intermediate amino acids enhances the OCT reaction so that the ammonia metabolism of OCT-deficient spf-ash mice is at least partially normalized.  (+info)

Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. (8/411)

6-Pyruvoyltetrahydropterin synthase (PTPS) participates in tetrahydrobiopterin cofactor biosynthesis. We previously identified in a PTPS-deficient patient an inactive PTPS allele with an Arg(16) to Cys codon mutation. Arg(16) is located in the protein surface exposed phosphorylation motif Arg(16)-Arg-Ile-Ser, with Ser(19) as the putative phosphorylation site for serine-threonine protein kinases. Purification of recombinant PTPS-S19A from bacterial cells resulted in an active enzyme (k(cat)/K(m) = 6.4 x 10(3) M(-1) s(-1)), which was similar to wild-type PTPS (k(cat)/K(m) = 4.1 x 10(3) M(-1) s(-1)). In assays with purified enzymes, wild-type but not PTPS-S19A was a specific substrate for the cGMP-dependent protein kinase (cGK) type I and II. Upon expression in COS-1 cells, PTPS-S19A was stable but not phosphorylated and had a reduced activity of approximately 33% in comparison to wild-type PTPS. Extracts from several human cell lines, including brain, contained a kinase that bound to and phosphorylated immobilized wild-type, but not mutant PTPS. Addition of cGMP stimulated phosphotransferase activity 2-fold. Extracts from transfected COS-1 cells overexpressing cGKII stimulated Ser(19) phosphorylation more than 100-fold, but only 4-fold from cGKI overexpressing cells. Moreover, fibroblast extracts from mice lacking cGKII exhibited significantly reduced phosphorylation of PTPS. These results suggest that Ser(19) of human PTPS may be a substrate for cGKII phosphorylation also in vivo, a modification that is essential for normal activity.  (+info)

NIH Rare Diseases : 50 lysinuric protein intolerance is a metabolic disorder caused by the bodys inability to digest and use the amino acids lysine, arginine, and ornithine. because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. a lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. symptoms usually develop after infants are weaned and begin to eat solid foods. lysinuric protein intolerance is caused by mutations in the slc7a7 gene. it is inherited in an autosomal recessive manner. last updated: 11/15/2010 ...
Genetics Home Reference : 25 Lysinuric protein intolerance is a disorder caused by the bodys inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter ...
Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic aminoaciduria or familial protein intolerance, is an autosomal recessive metabolic disorder affecting amino acid transport. About 140 patients have been reported, almost half of them of Finnish origin. Individuals from Japan, Italy, Morocco and North Africa have also been reported. Infants with LPI are usually symptom-free when breastfed because of the low protein concentration in human milk, but develop vomiting and diarrhea after weaning. The patients show failure to thrive, poor appetite, growth retardation, enlarged liver and spleen, prominent osteoporosis and osteopenia, delayed bone age and spontaneous protein aversion. Forced feeding of protein may lead to convulsions and coma. Mental development is normal if prolonged episode of hyperammonemia can be avoided. Some patients develop severe pulmonary and renal complications. High levels of plasma glutamine and glycine are observed. It has been ...
LPI is an autosomally recessively inherited amino acid disorder due to defective transport of cationic amino acids lysine, arginine and ornithine in the intestine and kidney tubules. The absence or dysfunction of the transport process leads to low plasma and high urine concentration of the cationic (dibasic) amino acids. Clinical presentation of the disease usually takes place during the weaning period when breast feeding is replaced by cows milk and other high protein diets. Nausea, vomiting and mild diarrhea usually are the first symptoms followed by failure to thrive and growth retardation. Later liver and spleen become enlarged, muscles are hypotonic and osteoporosis can cause bone fractures. High protein intake can lead to hyperammonemia and even to coma, possibly accounting for the mild intellectual deficit found in few cases of LPI. Many patients have spontaneously developed aversion to protein rich food. A pulmonary complication of unknown mechanism, alveolar proteinosis has occurred in few
PAP in LPI is often untreatable and results in death. In this study, we carefully characterized BALF and tissue samples obtained from an LPI patient. The data revealed elevated levels of protein and dying cells in the airways. In addition, large cholesterol crystals and abnormal tubular myelin structures were found. Our primary cell culture assays using Alexa-647 conjugated BSA and apoptotic Jurkat T cells showed that pre-incubation of the LPI BAL cells with SP-D and GM-CSF increased their innate immune functions. Surprisingly, many of these LPI cells, but not the control cells, became elongated and stopped internalizing foreign material; eventually they formed granulomas ex vivo. Notably, treating these cells with GM-CSF ex vivo dramatically increased granuloma formation. However, treating the cells with SP-D reduced GM-CSF-mediated granuloma formation. Therefore, these findings may provide important clues for devising better treatment of PAP in LPI patients.. Although various SLC7A7 mutations ...
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Kit Component:- KN223846G1, MMACHC gRNA vector 1 in pCas-Guide vector- KN223846G2, MMACHC gRNA vector 2 in pCas-Guide vector- KN223846D, donor vector…
I am so frustrated b/c i cant figure out what is wrong with my four month old.twins (two.months adjusted). They were born 9weeks early and.spent 6wks in the nicu. They got pumped milk, maybe once or twice if at all? formula.early.on (i.cant recall) and towards the end had human.milk.fortifier.added to help with gaining. They were bottle fed and.only after they were discharged did.we really get breastfeeding. By their due date they were 100% breastfed and gaining fine. Initially
I am so frustrated b/c i cant figure out what is wrong with my four month old.twins (two.months adjusted). They were born 9weeks early and.spent 6wks in the nicu. They got pumped milk, maybe once or twice if at all? formula.early.on (i.cant recall) and towards the end had human.milk.fortifier.added to help with gaining. They were bottle fed and.only after they were discharged did.we really get breastfeeding. By their due date they were 100% breastfed and gaining fine. Initially
Formula #1 Protein Digest - NESS Protein Digest is uniquely formulated with enzymes concentrated from specifically cultivated sources to help optimize thedigestion of high-protein diets minimizing protein intolerance.
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism, characterised by defective transport of the cationic amino acids lysine, arginine and ornithine. To date there are few reported necropsy cases. This report describes the necropsy findings in a 21 year old female patient originally diagnosed as having LPI in 1973. Liver function tests deteriorated and immediately before death jaundice, hyperammonaemia, coma, metabolic acidosis, and a severe bleeding diathesis developed. At necropsy, there was micronodular cirrhosis of the liver with extensive fatty change in hepatocytes. The lungs showed pulmonary alveolar proteinosis. Immunofluorescence and electron microscopy revealed the presence of a glomerulonephritis with predominant IgA deposition. These necropsy findings reflect the spectrum of lesions reported in LPI, providing further evidence of an association between this condition and pulmonary alveolar proteinosis, cirrhosis and glomerulonephritis.. ...
TY - JOUR. T1 - Activation of nuclear factor E2-related factor 2 in hereditary tyrosinemia type 1 and its role in survival and tumor development. AU - Marhenke, Silke. AU - Lamlé, Jutta. AU - Buitrago-Molina, Laura Elisa. AU - Cañón, José Manuel Fernández. AU - Geffers, Robert. AU - Finegold, Milton. AU - Sporn, Michael. AU - Yamamoto, Masayuki. AU - Manns, Michael P.. AU - Grompe, Markus. AU - Vogel, Arndt. PY - 2008/8. Y1 - 2008/8. N2 - In tyrosinemia type 1 (HT1), accumulation of toxic metabolites results in oxidative stress and DNA damage, leading to a high incidence of hepatocellular carcinomas. Nuclear factor erythroid-2 related factor 2 (Nrf2) is a key transcription factor important for cellular protection against oxidative stress and chemical induced liver damage. To specifically address the role of Nrf2 in HT1, fumarylacetoacetate hydrolase (Fah)/NrJ2-/- mice were generated. In acute HT1, loss of Nrf2 elicited a strong inflammatory response and dramatically increased the mortality ...
TY - JOUR. T1 - The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. AU - Weinberg, Arthur G.. AU - Mize, Charles E.. AU - Worthen, Howard G.. PY - 1976/3. Y1 - 1976/3. N2 - A 5 1/2-year-old child with hepatocarcinoma complicating hereditary tyrosinemia is presented. A review of the literature and an attempted follow-up of previously reported patients with the chronic form of hereditary tyrosinemia have disclosed 16 cases of hepatocarcinoma occurring in 43 patients surviving beyond 2 years of age (37%). This incidence is considerably higher than that generally given for the occurrence of hepatoma in adults with macronodular cirrhosis. Females and males are equally at risk. Additional factors beyond the development of cirrhosis are likely operative in the induction of hepatocarcinoma in patients with this metabolic disorder; those surviving beyond infancy are at considerable risk for the development of fatal hepatic neoplasms.. AB - A 5 1/2-year-old child with hepatocarcinoma ...
More than 40 mutations in the SLC7A7 gene have been found to cause lysinuric protein intolerance. All of these mutations impair the y+LAT-1 proteins ability to transport amino acids. People with lysinuric protein intolerance who are of Finnish descent typically have the same mutation. This mutation (written as IVS6-2A,T) disrupts the way the genes instructions are used to make the y+LAT-1 protein, causing the protein to be misplaced in the cell.. Mutations in the y+LAT-1 protein disrupt the transportation of amino acids, leading to a shortage of lysine, arginine, and ornithine in the body and an abnormally large amount of these amino acids in urine. The abnormal transportation and shortage of these amino acids in various tissues of the body leads to the signs and symptoms of lysinuric protein intolerance. ...
Human skin-derived mesenchymal stromal cells do not rescue hereditary tyrosinemia type 1 mice after permanent nitisinone withdrawal ...
3-methylglutaconic aciduria type 1 (3MGA1) is a genetic disorder in which the body cannot get energy from a substance called leucine. Leucine is one of the amino acids, which are the building blocks of proteins in our bodies. Because people with 3MGA1 cant break down leucine for energy to support muscle function and growth, they have a variety of symptoms that are present at birth. These symptoms may include developmental delays, seizures, muscle twitches (dystonia), and muscle weakness.. 3MGA1 is caused by a mutation (change) to the AUH gene, which produces a protein to break down leucine. When there is a mutation to the AUH gene, this protein either isnt produced or isnt functional, so the body cant get energy from leucine. Under normal conditions, the protein is present in the part of the cell that produces energy (the mitochondria), so 3MGA1 is a type of mitochondrial disease. 3MGA1 is also an organic acid condition because it causes harmful 3-methylglutaconic acid build up in the ...
Breast feeding is the most nutritious form of nourishment in infants and is recommended for at least the first four months of life. Breast fed infants may develop milk protein intolerance. The management of breast milk protein intolerance differs from that of cows milk protein intolerance in formula fed infants. Because breast milk is considered by many to be nutritionally superior to formula and results in maternal infant bonding mothers are often told to continue breast feeding. Despite the lack of evidence based data to support or refute the modification of the mothers diet, it is suggested that they eliminate their own intake of dairy products strictly and avoid supplementing with a cows milk based formula. We are doing this study because we believe that deletion of dairy from the diet of a breast feeding mother will not cause BMPI to resolve ...
TY - JOUR. T1 - Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice. AU - Yang, Shuzhang. AU - Siepka, Sandra M.. AU - Cox, Kimberly H.. AU - Kumar, Vivek. AU - De Groot, Marleen. AU - Chelliah, Yogarany. AU - Chen, Jun. AU - Tu, Benjamin. AU - Takahashi, Joseph S.. PY - 2019/10/29. Y1 - 2019/10/29. N2 - Fumarylacetoacetate hydrolase (FAH) is the last enzyme in tyrosine catabolism, and mutations in the FAH gene are associated with hereditary tyrosinemia type I (HT1 or TYRSN1) in humans. In a behavioral screen of N-ethyl-N-nitrosourea mutagenized mice we identified a mutant line which we named swingshift (swst, MGI:3611216) with a nonsynonymous point mutation (N68S) in Fah that caused age-dependent disruption of sleep-wake patterns. Mice homozygous for the mutation had an earlier onset of activity (several hours before lights off) and a reduction in total activity and body weight when compared with wild-type or heterozygous mice. Despite abnormal ...
Lysine and its bioactive form L-lysine, abbreviated Lys or L, is an essential amino acid. Normal requirements for adults are between 8 g per day or 12 mg/kg. Children and infants need more: 44 mg/kg per day for an eleven to-twelve-year old, and 97 mg/kg per day for three-to six-month old. Lysine is highly concentrated in muscle compared to most other amino acids. Normal lysine metabolism is dependent upon many nutrients including niacin, vitamin B6, riboflavin, vitamin C, glutamic acid and iron. Several inborn errors of lysine metabolism are known, such as cystinuria, hyperdibasic aminoaciduria I, lysinuric protein intolerance, propionic acidemia, and tyrosinemia I. Most are marked by mental retardation with occasional diverse symptoms such as absence of secondary sex characteristics, undescended testes, abnormal facial structure, anemia, obesity, enlarged liver and spleen, and eye muscle imbalance. Low lysine levels have been found in patients with Parkinsons, hypothyroidism, kidney disease, ...
Neurometabolic Disorders Market Research is expecting to accrue strong growth in forecasts frame, drive By Disease Type, Route of Administration and Geography.
Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. {ECO:0000269,PubMed:10080182, ECO:0000269,PubMed:10631139, ECO:0000269,PubMed:10655553, ECO:0000269,PubMed:12402335, ECO:0000269,PubMed:15756301, ECO:0000269,PubMed:15776427, ECO:0000269,PubMed:17764084, ECO:0000269,PubMed:9829974}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
The Neocate hypoallergenic infant formula product range has been designed for infants and children with cows milk allergy, multiple food protein intolerance, and a range of food allergy induced disorders. The formulas are based on 100% free amino acids and do not contain any cows milk protein to reduce the possibility of a food allergic reaction.
Think your baby has milk protein intolerance? Seek timely diagnosis, like exclusion diet and take measures, like switch formula, to keep your baby on the safe side.
When a section of mouse chromosome 7 containing the coat color c gene is deleted by exposing mice to radiation, albino mice are born with a white, hairless coat.
Persistent 4-hydroxybutyric aciduria (gamma-hydroxybutyric aciduria).. Documented succinic semialdehyde dehydrogenase enzyme deficiency.. Patients will be at least 12 years old.. Be enrolled in the taurine study at CNMC.. EXCLUSION CRITERIA:. Pregnancy or lactation.. Patients with a history of other significant medical disorders.. Patients requiring treatment with drugs known to affect the GABAergic system, including vigabatrin, barbiturates, and benzodiazepines.. Hearing loss. The effect of TMS on hearing is not fully known. Patients will be screened with an Audiometer.. Abnormal platelets or coagulation studies suggesting increased risk for lumbar puncture or TMS. Exclusions for MRI and MRS: pacemakers or other implanted electrical devices, brain stimulators, some types of dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pump, or shrapnel ...
Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, OConnor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL. Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. Sci Transl Med. 2016 Jul 27; 8 (349):349ra99 ...
The functional and structural integrity of the brain requires local adjustment of blood flow and regulated delivery of metabolic substrates to meet the metabolic demands imposed by neuronal activation. This process - neurovascular coupling - and ensued alterations of glucose and oxygen metabolism - neurometabolic coupling - are accomplished by concerted communication between neural and vascular cells. Evidence suggests that neuronal-derived nitric oxide (•NO) is a key player in both phenomena. Alterations in the mechanisms underlying the intimate communication between neural cells and vessels ultimately lead to neuronal dysfunction. Both neurovascular and neurometabolic coupling are perturbed during brain aging and in age-related neuropathologies in close association with cognitive decline. However, despite decades of intense investigation, many aspects remain poorly understood, such as the impact of these alterations. In this review, we address neurovascular and neurometabolic derailment in aging and
Impairments in the production of neurotransmitters may lead to depression in some patients, preliminary results show, opening new avenues for research.
The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers),. JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings. Topics ...
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
Inborn Errors Metabolism: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Essential Vegan Protein Powder, by Valia, is infused with enzymes that assist in the digestion process, making it consumable to those who have a protein intolerance.
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.
Finden Sie alle Bücher von O. Sperling, A.De Vries - Inborn Errors of Metabolism in Man (Pt. 2). Bei der Büchersuchmaschine können Sie antiquarische und Neubücher VERGLEICHEN UND SOFORT zum Bestpreis bestellen. 3805528353
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
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 ...
Invitrogen Anti-MMACHC Polyclonal, Catalog # PA5-55596. Tested in Western Blot (WB) and Immunohistochemistry (IHC) applications. This antibody reacts with Human samples. Supplied as 100 µL purified antibody (0.3 mg/mL).
To demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 ...
Glutaric acidemia type 1 (or glutaric aciduria, GA1, or GAT1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur. The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others have severe problems. GA1 can be defined as two clinical entities: GA1 before the encephalopathic crisis and GA1 after the encephalopathic crisis. Babies with glutaric acidemia type 1 often are born with unusually large heads (macrocephaly). Macrocephaly is amongst ...
TEXTBOOKS. Goodman SI, Frerman FE. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, et al. Eds. The Metabolic Molecular Basis of Inherited Disease. 7th ed. McGraw-Hill Companies. New York, NY; 1995:1451-60.. JOURNAL ARTICLES. Bahr O, Mader I, Zschocke J, et al. Adult onset glutaric aciduria type I presenting with leukoencephalopathy. Neurology. 2002;59:1802-04.. Kolker S, Ramaekers VT, Zschocke J, et al. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. J Pediatr 2001;138:277-79.. Zafeiriou DI, Zschocke J, Augustidou-Savvopoulou P, et al. Atypical and variable clinical presentation of glutaric aciduria type I. Neuropediatrics. 2000;31:303-06.. Kafil-Hussain NA, Monavari A, Bowell R, et al. Ocular findings in glutaric aciduria type I. J Pediatr Ophthalmol Strabismus. 2000;37:289-93.. Busquets C, Coll MJ, Merinero B, et al. Prenatal ...
Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I (GA1) and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.
STRASBURG, PA - A new study summarizes over 30 years of clinical experience in the treatment and management of glutaric acidemia type 1 (GA1), a rare and potentially devastating metabolic disorder caused by variants in the GCDH gene. The study followed the clinical course of 168 individuals with GA1 who were born between 1973 and 2019 and originated from 26 states and 6 countries. Participants were divided into three cohorts based on timing of diagnosis and method of treatment. The study was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children (CSC) and will appear in Molecular Genetics and Metabolism. It establishes a safe and highly effective standard-of-care for the treatment of GA1, and should serve as a rich and valuable resource for dieticians, physicians, and GA1 families throughout the world for years to come.. Read the full press release HERE. Read the full paper HERE. ...
OVERVIEW: What every practitioner needs to know Are you sure your patient has glutaric aciduria type I? What are the typical findings for this disease? Glutaric aciduria type I (GA-I) should be considered in any patient who has a history of dystonia/dyskinesia with macrocephaly. Prior to these overt chronic neurologic symptoms, there is usually a…. ...
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A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Glutaric acidemia type III
However, much later on an infant suffering from glutaric aciduria II will develop macrocephaly. What will trigger the appearance of the symptoms is infection or conditions like gastrointestinal disturbance. The initial results will show symptoms resembling viral encephalitis or ADEM. The patients diagnose with this condition exhibit deterioration of their condition. In some instances, those that exhibit glutaric aciduria II later in their adult life will show encephalopathy and still other symptoms. It is important to have an MRI for proper imaging and to avoid triggering the condition to move from a slower to faster phase and have an effect on the person suffering from this genetic disorder. This inherited genetic disorder leads to an accumulation of glutaric acid in the brain and body fluids. This also includes its presence in the urine. This is an altogether disease different from other unrelated enzyme deficiencies. Even if there are laboratory testing made like routine blood, urine and CSF ...
Methylmalonic acidemia (MMA) is a heterogeneous disorder of propionate metabolism. MMA is caused by deficiency of the mitochondrial enzyme, methylmalonyl-CoA mutase-apoenzyme activity (MUT) or defective in adenosylcobalamin (coenzyme) synthesis.1 The most patients with cblA and half patients with cblB forms of MMA are responsive to vitamin B12.2,3 Clinical manifestation of MMA may be acute or chronic. The acute form of the disease occurs during infancy and even as early as the second day of life with poor feeding, vomiting, dehydration, weight loss, temperature instability, lethargy, hypotonia, seizure and progressing to coma. Laboratory findings include: metabolic acidosis, ketosis, hypoglycemia, hyperlactatemia, hyperammonemia, pancytopenia.4. Definitive diagnosis of isolated MMA is based on analysis of organic acids in plasma and/or urine; however genetic testing diagnosis in some condition is accessible to confirm the diagnosis of isolated MMA. Below, we describe the presentation and ...
Methylmalonic acidemia (MMA) is an autosomal recessive disorder resulting in failure to process various amino acids and lipids. The classical form results in methylmalonyl CoA mutase deficiency, preventing the Vit B12-dependent conversion of methylmalonyl CoA to succinyl CoA, required in Krebs cycle. Patients typically present in early infancy with lethargy, vomiting, dehydration and failure to thrive. Long-term complications include renal failure (CRF), encephalopathy and pancreatitis. 4 cases of optic atrophy (OA) have been reported in classical MMA on appropriate dietary restrictions. The exact etiology is unknown but likely is multi-factorial. With improved survival of patients offered advanced treatment, OA needs to be identified so that prophylactic/therapeutic intervention, when available, can be incorporated into management protocols. The purpose of this observational study is to identify and determine the prevalence of OA in a small cohort of patients with classical MMA.. ...
As of March 2016, we compared 17.37 Mb of Sanger DNA sequence generated at PreventionGenetics to NextGen sequence generated in other labs. We detected only 4 errors in our Sanger sequences, and these were all due to allele dropout during PCR. For Proficiency Testing, both external and internal, in the 12 years of our lab operation we have Sanger sequenced roughly 8,800 PCR amplicons. Only one error has been identified, and this was due to sequence analysis error.. Our Sanger sequencing is capable of detecting virtually all nucleotide substitutions within the PCR amplicons. Similarly, we detect essentially all heterozygous or homozygous deletions within the amplicons. Homozygous deletions which overlap one or more PCR primer annealing sites are detectable as PCR failure. Heterozygous deletions which overlap one or more PCR primer annealing sites are usually not detected (see Analytical Limitations). All heterozygous insertions within the amplicons up to about 100 nucleotides in length appear to ...
Oberholzer et al and Stokke et al reported the first patients with methylmalonic acidemia (MMA). Clinical and genetic heterogeneity became evident very early when some patients responded to pharmacological doses of cobalamin (vitamin B-12) and others did not.
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Methylmalonic acidemia
Propionic Acidaemia Synonyms: propionyl-CoA carboxylase deficiency, ketotic hyperglycinaemia. Propionic Acidaemia is a rare metabolic disorder.
3-methylglutaconic aciduria type 3 (OPA3) Test Cost INR 30000.00 Surat Pune Jaipur Lucknow Kanpur Nagpur Visakhapatnam Indore Thane Bhopal Patna Vadodara Ghaziabad Ludhiana Coimbatore Madurai Meerut Ranchi Allahabad Trivandrum Pondicherry Mysore Aligarh best offer discount price
Fingerprint Dive into the research topics of Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy: Clinical and radiographic features. Together they form a unique fingerprint. ...
Abstract Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders. These in vivo gene correction studies, as well as an overview of genome editing and future directions for the field, are reviewed and discussed herein ...
According to a study published in Nature Biotechnology, a more efficient delivery of a CRISPR/Cas9 therapeutic to adult mice with the metabolic disease Tyrosinemia type I developed by Wen Xue, PhD, may also prove to be safer for use in humans.
Mutations in the human MMAA gene cause the metabolic disorder cblA-type methylmalonic aciduria (MMA), although knowledge of the mechanism of dysfunction remains lacking. MMAA regulates the incorporation of the cofactor adenosylcobalamin (AdoCbl), generated from the MMAB adenosyltransferase, into the destination enzyme methylmalonyl-CoA mutase (MUT). This function of MMAA depends on its GTPase activity, which is stimulated by an interaction with MUT. Here, we present 67 new patients with cblA-type MMA, identifying 19 novel mutations. We biochemically investigated how missense mutations in MMAA in 22 patients lead to disease. About a third confer instability to the recombinant protein in bacterial and human expression systems. All 15 purified mutant proteins demonstrated wild-type like intrinsic GTPase activity and only one (p.Asp292Val), where the mutation is in the GTP binding domain, revealed decreased GTP binding. However, all mutations strongly decreased functional association with MUT by ...
Mutations in the human MMAA gene cause the metabolic disorder cblA-type methylmalonic aciduria (MMA), although knowledge of the mechanism of dysfunction remains lacking. MMAA regulates the incorporation of the cofactor adenosylcobalamin (AdoCbl), generated from the MMAB adenosyltransferase, into the destination enzyme methylmalonyl-CoA mutase (MUT). This function of MMAA depends on its GTPase activity, which is stimulated by an interaction with MUT. Here, we present 67 new patients with cblA-type MMA, identifying 19 novel mutations. We biochemically investigated how missense mutations in MMAA in 22 patients lead to disease. About a third confer instability to the recombinant protein in bacterial and human expression systems. All 15 purified mutant proteins demonstrated wild-type like intrinsic GTPase activity and only one (p.Asp292Val), where the mutation is in the GTP binding domain, revealed decreased GTP binding. However, all mutations strongly decreased functional association with MUT by reducing
D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxyglutaric aciduria was initiated to solve this issue. Th …
Learn more about [email protected] Aciduria, Type I from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.
Glutaric acidemia, type IIc is a pan-ethnic autosomal recessive disease caused by pathogenic variants in the gene ETFDH. It is a metabolic disease which prevents the body from properly breaking down proteins and fats. The clinical presentation is highly variable. In the neonatal form of the disease, affected infants may have congenital anomalies, and the disease is usually fatal very early in life. In the later onset form, affected individuals may develop symptoms in childhood or adulthood, or may remain asymptomatic. Symptoms include episodes of metabolic crisis, which include lethargy, vomiting, muscle weakness, and enlarged liver. Life expectancy depends on the severity of disease. Different types of pathogenic ETFDH variants have been correlated with disease severity. Therefore, the phenotype may be somewhat predicted based on the inherited variants.. For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.. ...
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation : Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current management, PA is associated with severe neurological sequelae, in particular movement disorders resulting from basal ganglia infarction, although the pathogenesis remains poorly understood. The role of liver transplantation remains
Obviously its all quite restrictive and thats a problem for school trips and things. Youve got to notify local hospitals in advance and normally get GOSH to fax my regimes and things through so I can get treatment quickly if needed. I cant go on school trips abroad - it would be too difficult for the school.. Also, I take packed lunches to school, and when we go to restaurants, Mum has to phone ahead to explain. When we go on holiday, we have to take a load of food with us, so I cant stay in a hotel. It does restrict the type of holiday we go on.. My family cope really well. They couldnt do anything better to adapt, theyre incredible. But MMA really isnt as bad as you might read on the internet.. Ive been to the British Grand Prix. Id always said to Mum and Dad that I really wanted to see a Formula 1™ race, and when we came to GOSH someone showed us a poster. We filled out an application form and I got selected. I was over the moon. We went on a garage tour and I met drivers ... ✅ In the autumn of 1999, the decease of Jesse Gelsinger stunned the medical research universe and put back cistron therapy for old ages. ...
A screen positive result means that more tests are needed to know whether or not a baby has tyrosinemia. It does not mean that a baby has Tyrosinemia. Babies identified at a young age through screening can be treated early to help prevent health problems ...
Ledoux P., Scriver C.R., Hechtman P.. Prolidase (E.C. cleaves iminodipeptides. Prolidase deficiency (PD; McKusick 170100) is an autosomal recessive disorder with highly variable penetrance. We have identified two novel alleles in the prolidase gene (PEPD) by direct sequencing of PCR-amplified cDNA from a PD individual asymptomatic at age 11 years: a 551G-->A transition in exon 8 (R184Q) and a 833G-->A transition in exon 12 (G278D). To assess the biochemical phenotypes of these and two previously identified PEPD mutations (G448R and delE452), we have designed a transient-expression system for prolidase in COS-1 cells. The enzyme was expressed as a fusion protein carrying an N-terminal tag, the HA1 epitope of influenza hemagglutinin, allowing its immunological discrimination from the endogenous enzyme with a monoclonal antibody. Expression of the R184Q mutation produced 7.4% of control enzymatic activity whereas the expression of the G278D, G448R, and delE452 mutations produced inactive ...
Sigma-Aldrich offers abstracts and full-text articles by [R Pérez-Carro, R Sánchez-Alcudia, B Pérez, R Navarrete, C Pérez-Cerdá, M Ugarte, L R Desviat].
2 members Glutaric Aciduria Type 1 is a rare inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan causing damage to the brain and other... ...
Sorry its been a crazy week, had guests and had showings finally sold our house (building a new one thats almost done) I am doing ok . Yes i have asthma for the person up and my son has some lung stuff going on too. WE have some rare conditions in our family. I have altogether itp, fms, graves, hypoparathyroidism, ibs and a probable neuro muscular disease/metabolic. MY son has glutaric aciduria type 2, and chronic pneumonia and asthma, hypotonia and severe speech delays. my thyroid levels all seem to be in tact, yet, my goiter is still present. I am checked redily on my calcium yet i cant sustain a calcium level of over 6 w/o suppliments. The humidity has brought the worst out in my wheezing. I also noticed blood in urine i have to have checked this week too someitme. I do notice upon excersize sudden race of the heart my o2 drops to lower levels. and I feel it. Is it from being out of shape like my mom says? I find i have a hard time even excersizing but i try to do it safely. Sarah ...
Next-day shipping cDNA ORF clones derived from MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria available at GenScript, starting from $99.00. Instructional Tutorial Video Chronic Pancreatitis. Diabetic Ice Cream Shops Test Uk Eye romeohvaldes 21282 views. How Many Carbs Should a Diabetic Eat in a Day? What you eat is closely connected to the amount of sugar in your blood.. The website is complimentary to the Equine Cushings and Insulin Resistance outreach group. Hereditary Tyrosinemia Type 1 - Which speciality or department in the hospital treats this? Irritable Bowel Syndrome Treatments Arent One-Size-Fits-All. Salmon is one of the best foods for diabetics as it specializes in reducing the risk of heart diseases for those having type2 diabetes which has an added threat of cardiovascular diseases. CONTEXT: The relationship between 25-hydroxyvitamin D [25(OH)D] and obesity and type 2 diabetes is not completely understood. Understanding Diabetes :: Gestational Diabetes Diet Menu Ideas - The 3 Step Trick that Reverses Diabetes Permanently in As Little as 11 Days.. Offering photographic and consumer ...
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The greatest challenge of majoring in biology in college was mastering the chemical steps that build up and break down the 20 types of amino acids specified by the genetic code. I could memorize ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Oculocutaneous tyrosinemia; Richner-Hanhart syndrome
RAS-like GTPase Transport Protein: This protein from M. tuberculosis is a member of the Ras super family of proteins. Ras is involved in signal transduction and activating mutations in human Ras are associated with many types of cancer. While originally annotated as an arginine/ornithine transport system ATPase, we show that the protein is most likely a GTPase based on the compound (GDP) bound to the structure. The structure of the GTPase domain of the protein is similar to that of human Ras and several amino acids that line the GTP binding pocket are conserved. Ras-like GTPases use the organic chemical GTP (guanosine-5-triphosphate) as a regulator of function. During the signal transduction reaction, GTP is converted to GDP (guanosine diphosphate). GDP is shown in the figure bound to the active site of the M. tuberculosisRAS-like GTPase crystal structure. Our structure is related in sequence and structure to the methylmalonic acidemia type A protein (PDB ID 2WWW), a protein which is responsible for a
Among the defects in cobalamin metabolism, two complimentary groups, Cbl A and B, affect synthesis of adenosyl cobalamin. Two other groups, Cbl E and G, affect the synthesis of methyl cobalamin, which is an essential cofactor for methionine synthase, and defects result in hyperhomocysteinemia. Also, defects in Cbl C, D, and F affect synthesis of both adenosyl cobalamin and methyl cobalamin, and will therefore result in both methylmalonic acidemia and hyperhomocysteinemia ...
Abstract: Methionine adenosyltransferase (MAT) deficiency, characterized by isolated persistent hypermethioninemia (IPH), is caused by mutations in the MAT1A gene encoding MATαl, one of the major hepatic enzymes. Most of the associated hypermethioninemic conditions are inherited as autosomal recessive traits; however, dominant inheritance of hypermethioninemia is caused by an Arg264His (R264H) mutation. This mutation has been confirmed in a screening programme of newborns as the most common mutation in babies with IPH. Arg264 makes an inter-subunit salt bridge located at the dimer interface where the active site assembles. Here, it is demonstrated that the R264H mutation results in greatly reduced MAT activity, while retaining its ability to dimerize, indicating that the lower activity arises from alteration at the active site. The first crystallographic structure of the apo form of the wild-type MATαl enzyme is provided, which shows a tetrameric assembly in which two compact dimers combine to ...
Acidemia, Glutaric Type I. In: Hay, Jr WW, Levin MJ, Deterding RR, Abzug MJ. Hay, Jr W.W., Levin M.J., Deterding R.R., Abzug M.J. Eds. William W. Hay, Jr, et al.eds. Quick Medical Diagnosis & Treatment Pediatrics New York, NY: McGraw-Hill; .§ionid=166955028. Accessed October 22, 2017 ...
A recent case report by Traber et al in the Journal of Neuroopthalmology (August 25, 2011 Epub) describes an adult patient with methylmalonic acidemia (MMA) and sudden onset of bilateral vision loss with optic atrophy. This may not be commonly though of as a frequent adult complication of MMA. However, this sudden onset of vision loss has been described before in adults […]. ...
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The National Institute of Standards and Technology (NIST) uses its best efforts to deliver a high quality copy of the Database and to verify that the data contained therein have been selected on the basis of sound scientific judgment. However, NIST makes no warranties to that effect, and NIST shall not be liable for any damage that may result from errors or omissions in the Database ...
List of amino acid metabolism disorders Inborn error of metabolism "Hyperprolinemia". Genetics Home Reference. National ... Amino acid metabolism disorders, Autosomal recessive disorders, Disorders causing seizures, Rare diseases). ... This enzyme helps to break down the pyrroline-5-carboxylate produced in the previous reaction, converting it to the amino acid ... Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline ...
List of amino acid metabolism disorders inborn errors of metabolism Sarafoglou, Kyriakie; Hoffmann, Georg F.; Roth, Karl S. ( ... Amino acid metabolism disorders, Inborn errors of metabolism, Autosomal recessive disorders, Rare diseases). ... Standard evaluation for inborn errors of metabolism and other causes of this presentation does not reveal any abnormality (no ... After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is ...
Inborn errors of metabolism Imidazole Aromatic amino acids Recessive disorders Imaeda M, Wada Y (1998). "Urocanic aciduria ( ... The amino acid histidine, when catalyzed by the enzyme histidase, forms urocanic acid. Disruptions in this pathway, caused by a ... Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases). ... It is a secondary disorder of histidine metabolism. Urocanic aciduria is thought to be relatively benign. Although aggressive ...
... the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase catalyzes the conversion of L-phenylalanine to ... Biopterin-dependent aromatic amino acid hydroxylases (AAAH) are a family of aromatic amino acid hydroxylase enzymes which ... Each AAAH enzyme contains iron and catalyzes the ring hydroxylation of aromatic amino acids using tetrahydrobiopterin (BH4) as ... functional domains and evolution of aromatic amino acid hydroxylases". Proc. Natl. Acad. Sci. U.S.A. 84 (16): 5530-4. Bibcode: ...
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids. ... Amino acid metabolism disorders, All stub articles, Endocrine, nutritional and metabolic disease stubs). ... Alkaptonuria Aspartylglucosaminuria Branched-chain keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup ...
Inborn errors of metabolism, Amino acid metabolism disorders, Autosomal recessive disorders). ... is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. ... Measurement of urine amino acid concentrations is sometimes necessary, particularly in neonatal onset cases to identify the ... Upon clinical suspicion, diagnostic testing will often consist of measurement of amino acid concentrations in plasma, in search ...
... (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... Amino acid metabolism disorders, Skin conditions resulting from errors in metabolism, Disorders causing seizures, Biology of ... The fact that CGMP is a peptide ensures that the absorption rate of its amino acids is prolonged compared to free amino acids ... The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this ...
v t e (Articles with short description, Short description is different from Wikidata, Amino acid metabolism disorders, All stub ... Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as ... salts or amino acids, to be transported across the brush border of the renal tubule. This results in disruptions of renal ...
... amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited ... Disorders of carbohydrate metabolism glycogen storage disease G6PD deficiency Disorders of amino acid metabolism ... detects abnormal amino acid patterns) Guthrie test (detects excessive amounts of specific amino acids in blood) The dried blood ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The ...
1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in ... Inborn errors of amino acid metabolism Tyrosinemia II Argininemia Benign hyperphenylalaninemia Defects of biopterin cofactor ... 1 in 100,000 Inborn errors of organic acid metabolism Glutaric acidemia type I (GA I) > 1 in 75,000 Hydroxymethylglutaryl lyase ... 1 in 100,000 Inborn errors of fatty acid metabolism Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) > 1 in 75,000 ...
... a rare autosomal recessive inborn error of metabolism in amino acid metabolisms involving branched-chain amino acids valine, ... methylmalonyl-CoA during the degradation of branched-chain amino acids, odd chain-length fatty acids, and other metabolites. In ... Several natural variants in amino acid sequences exist. The structure of the MCEE protein has been resolved by X-ray ... If the fatty acid began with an even number of carbons, this process could break down an entire saturated fatty acid into ...
... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty ... amino acid transport disorders, inborn MeSH C18.452.648.088.400 - hartnup disease MeSH C18.452.648.088.600 - oculocerebrorenal ... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ...
... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty ... amino acid transport disorders, inborn MeSH C16.320.565.088.400 - Hartnup disease MeSH C16.320.565.088.600 - oculocerebrorenal ... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ...
Inactive colon Inborn amino acid metabolism disorder Inborn branched chain aminoaciduria Inborn error of metabolism Inborn ... metabolic disorder Inborn renal aminoaciduria Inborn urea cycle disorder Incisors fused Inclusion-cell disease Inclusion ... Infantile onset spinocerebellar ataxia Infantile recurrent chronic multifocal osteomyolitis Infantile sialic acid storage ...
... occurs as the result of an inborn error of metabolism that may result in either an inactive or a severely reduced ... Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple ... However, histidinemia is considered the most prevalent inborn error of metabolism with a reported incidence of 1:8600 (Quebec ... "Experience and problems of newborn mass screening for inborn errors of metabolism in Japan". Acta Paediatrica Japonica. 23 (1 ...
... urine amino acids - used to test for some inborn errors of metabolism Brunzel 2018, pp. 19-22. Armstrong, J.A. (2007). " ... and testing for organic acids or amino acids in urine can be used to screen for some genetic disorders. The techniques used to ... ISBN 978-1-4963-2016-2. Reddi, A.S. (2014). Fluid, electrolyte, and acid-base disorders: clinical evaluation and management. ... used to help diagnose monoclonal gammopathies Urine organic acids, ...
Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ... usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms of untreated tyrosinemia ... Journal of Inborn Errors of Metabolism. 5 (1): 1-4. doi:10.1177/2326409817744230. Retrieved 12 March 2019. Grompe M (2016-12-20 ... Amino acid metabolism disorders, Autosomal recessive disorders). ... Tyrosinemia or tyrosinaemia is an error of metabolism, ...
... an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine Wolff also provided the ...
It is one of several inborn errors of metabolism included in the Garrod's tetrad. The disease is attributed to deficiency in ... amino acids: cystine, lysine, ornithine, arginine. Under normal circumstances, this protein allows certain amino acids, ... Amino acid metabolism disorders, Autosomal recessive disorders, Membrane transport protein disorders). ... The other amino acids that are not reabsorbed do not create crystals in urine.[citation needed] The overall prevalence of ...
CS1 errors: generic name, Amino acid metabolism disorders, Autosomal recessive disorders, Disorders causing seizures). ... Inborn metabolic diseases diagnosis and treatment (5th ed.). Berlin: Springer. ISBN 9783642157202. Retrieved 28 November 2016 ... Urinary orotic acid concentration Red blood cell arginase enzyme activity (measurement) The treatment for infants (individuals ... Protein intake limited Sodium benzoate Sodium phenylbutyrate Carglumic acid Glycerol phenylbutyrate Palonosetron Ondansetron ...
As an inborn error of metabolism, Tyrosinemia type I stems from a deficiency in the enzymatic catabolic pathway of ... These hydrolytic reactions are essential during aromatic amino acid human metabolism. Furthermore, FAH does not share known ... Mutations spread across the FAH gene observes clusters of amino acid residues such as alanine and aspartic acid residues. ... The FAH gene is thought to be involved in the catabolism of the amino acid phenylalanine in humans. Fumarylacetoacetate ...
This may be caused by congenital disorders of amino acid metabolism, for example, phenylketonuria, or may be secondary to liver ... Crook, Martin Andrew (2012). "Chapter 27: Inborn errors of metabolism". Clinical biochemistry and metabolic medicine (8th ed ... of the filtered amino acids back into the blood. In overflow aminoaciduria, abnormally high concentrations of amino acids in ... the renal tubules are unable to reabsorb the filtered amino acids back into the blood, causing high concentrations of amino ...
... amino acid sequence similarity to the human form. Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism caused by ... The chemically determined amino acid sequence revealed that chicken H-protein is composed of 125 amino acids with a lipoic acid ... Amino acid sequence and identification of the N epsilon-lipoyllysine residue". The Journal of Biological Chemistry. 261 (19): ... The GCSH is a heat-stable small protein with a covalently attached lipoic acid prosthetic group which interacts with the three ...
Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid ... Systemic primary carnitine deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter ... Activation and Transportation of Fatty Acids for Metabolism via Carnitine Shuttle "#212140; Carnitine ... Carnitine is needed to transport long chain fatty acids into the mitochondria, where they can be broken down to produce acetyl- ...
Measurement of amino acids in plasma or serum is used in the evaluation of disorders of amino acid metabolism such as urea ... Full genome sequencing Inborn error of metabolism Predictive medicine "American Board of Medical Genetics and Genomics". abmgg. ... These compounds are normally produced during bodily metabolism of amino acids and odd-chain fatty acids, but accumulate in ... Ammonia is an end product of amino acid metabolism and is converted in the liver to urea through a series of enzymatic ...
... disorders Peroxisomal disorder Glucose transporter defect Menkes disease Congenital disorders of amino acid metabolism Organic ... diabetes Hyperthermia Maternal hypothyroidism Placental insufficiency Craniosynostosis Genetic Inborn errors of metabolism ... Because some cases of microcephaly and its associated symptoms may be a result of amino acid deficiencies, treatment with amino ... PMID 18458003 de Koning, T. J. (2006). "Treatment with amino acids in serine deficiency disorders". Journal of Inherited ...
ISBN 978-0-07-182537-5. Broquist HP, Trupin JS (1966). "Amino Acid Metabolism". Annual Review of Biochemistry. 35: 231-247. doi ... and inborn errors". Annals of the New York Academy of Sciences. 573: 137-154. doi:10.1111/j.1749-6632.1989.tb14992.x. PMID ... may result in over-activation of the complex and excessive catabolism of the three amino acids. This leads to branched-chain ... BCKDC catalyzes an irreversible step in the catabolism of the branched-chain amino acids L-isoleucine, L-valine, and L-leucine ...
The metabolism and conjugation of phenylacetate with glutamine in the liver involves amino acid acetylation carried out by the ... within patients with hyperammonemia and inborn errors in urea synthesis. Phenylacetylglutamine levels in the urine serves as a ... circulated and retained in the blood after microbial fermentation of certain proteins and amino acids in the gut. Blood serum ... High levels of phenylacetylglutamine in the urine following metabolism by the gut microbiota may also indicate early renal ...
Articles with short description, Short description is different from Wikidata, Amino acid metabolism disorders, Autosomal ... Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. ( ... 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. ...
Nyhan WL (1997). "The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism" (PDF). J. Inherit. Metab. ... Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3- ... "A familial disorder of uric acid metabolism and central nervous system function". Am. J. Med. 36 (4): 561-70. doi:10.1016/0002- ...
... lack all amino acid synthesis and take their amino acids directly from their hosts. All amino acids are synthesized from ... Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... Amino acids also contribute to cellular energy metabolism by providing a carbon source for entry into the citric acid cycle ( ... amino acids can be linked in varying sequences to form a huge variety of proteins. Proteins are made from amino acids that have ...
... or hematin and glucose can abort attacks of acute intermittent porphyria in patients with an inborn error of metabolism of this ... from the amino acid glycine and succinyl-CoA from the citric acid cycle (Krebs cycle). The rate-limiting enzyme responsible for ... In addition, a unique sulfonamide ion linkage between the sulfur of a methionyl amino-acid residue and the heme 2-vinyl group ... For example, the ability of hemoglobin to effectively deliver oxygen to tissues is due to specific amino acid residues located ...
Inborn errors of metal metabolism, Hepatology, Autosomal recessive disorders, Iron metabolism). ... of ceruloplasmin protein that is unstable or nonfunctional by altering the open reading frame such that the amino acid ligands ... Human iron metabolism Iron overload disorder "Aceruloplasminemia , Genetic and Rare Diseases Information Center (GARD) - an ... molecular characterization of this disorder of iron metabolism". Proceedings of the National Academy of Sciences of the United ...
Ristoff E, Larsson A (2007). "Inborn errors in the metabolism of glutathione". Orphanet Journal of Rare Diseases. 2: 16. doi: ... This enzyme belongs to the family of ligases, specifically those forming carbon-nitrogen bonds as acid-D-amino-acid ligases ( ... This enzyme participates in glutamate metabolism and glutathione metabolism. At least one compound, Phosphinate is known to ... Then the amino group of glycine participates in a nucleophilic attack, displacing the phosphate group and forming GSH. After ...
The insufficiency of L-xylulose reductase activity causes an inborn error of metabolism disease characterized by excessive ... The DCXR gene encodes a membrane protein that is approximately 34 kDa in size and composed of 224 amino acids. The protein is ... The enzyme is involved in carbohydrate metabolism, glucose metabolism, the uronate cycle and may play a role in the water ...
"Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism". Journal of Inherited Metabolic ... is a post-translational modification that is characterized by the addition of a propionyl-group to a lysine amino acid residue ...
Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 153-161. ISBN 978-0-07- ... Amino acid metabolism disorders). ...
... and ambiguous genitalia Inborn errors of steroid metabolism 5α-Reductase (I, II) Androgen (testosterone and dihydrotestosterone ... 5αR2 consists of 254 amino acid residues with reported mutations at 67 of them with multiple different mutations at some ... Metabolism. 81 (1): 384-389. doi:10.1210/jcem.81.1.8550782. PMID 8550782. Thigpen, A E; Silver, R I; Guileyardo, J M; Casey, M ... Metabolism. 96 (2): 296-307. doi:10.1210/jc.2010-1024. PMID 21147889. Chan, Angel On Kei; But, Betty Wai Man; Lee, Ching Yin; ...
For amino acid metabolism, methylmalonyl-CoA mutase works in the degradation pathways of isoleucine, threonine, valine, and ... with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism ... All these propionyl-CoA substrates are converted to succinyl-CoA following the methylmalonyl pathway For amino acid metabolism ... These amino acids are degraded into propanoyl-CoA which is then further degraded into (S)-methylmalonyl-CoA. This substrate ...
Homocystinuria Cysteine Metabolism Amino acid S-Adenosyl-L-methionine Heme GRCh38: Ensembl release 89: ENSG00000160200 - ... Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and ... The heme domain is composed of 70 amino acids and it appears that the heme only exists in mammalian CBS and is absent in yeast ... The human enzyme cystathionine β-synthase is a tetramer and comprises 551 amino acids with a subunit molecular weight of 61 kDa ...
... and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism". ... Like some amino acids, sarcosine converts to a cation at low pH and an anion at high pH, with the respective formulas CH3N+(H) ... Sarcosine is an amino acid derivative that is naturally found in muscles and other body tissues. In the laboratory, it may be ... "Formate Metabolism in Health and Disease". Molecular Metabolism. 33: 23-37. doi:10.1016/j.molmet.2019.05.012. PMC 7056922. PMID ...
This is an autosomal recessive inborn error of metabolism. It is caused by a mutation in the gene that codes for the synthesis ... amino acids acquired through dietary protein consumption. When 4-maleylacetoacetate isomerase is unable to function properly, ... "3,5-Dioxooctanedioic acid". PubChem Compound Database. National Center for Biotechnology Information. U.S. National Library of ...
... many similar to human inborn errors of metabolism. The high level of similarity among the metabolism of mammals allows many of ... Their taste buds instead respond to acids, amino acids like protein, and bitter tastes. Cats also have a distinct temperature ... they dislike chilled foods and respond most strongly to moist foods rich in amino acids, which are similar to meat. Cats reject ...
Amino acid metabolism disorders, Autosomal recessive disorders, Skin conditions resulting from errors in metabolism). ... doi:10.1016/s0140-6736(01)78041-5. Garrod AE (1909). Inborn errors of metabolism. Oxford University Press. OL 7116744M. Kean, ... The HGD enzyme is involved in the metabolism (chemical processing) of the aromatic amino acids phenylalanine and tyrosine. ... Garrod AE (1908). "The Croonian lectures on inborn errors of metabolism: lecture II: alkaptonuria". Lancet. 2 (4428): 73-79. ...
Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. "Tyrosinemia type 2". ... Amino acid metabolism disorders, Autosomal recessive disorders, Palmoplantar keratodermas, All stub articles, Cutaneous ...
Ghaziuddin, Mohammad; Al-Owain, Mohammed (2013). "Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update". ... The amino acid sequence that encodes DHCR7 is predicted to contain 475 amino acids, as well as several protein motifs. It ... Much depends on the nature of the mutation (i.e. which amino acid is replaced and where). Null mutations are much less common, ... Missense mutations (single nucleotide change resulting in a code for a different amino acid) are the most common, accounting ...
... is a rare inborn error of metabolism. To date only 21 cases have been described. The clinical picture ... is a zinc binding enzyme which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid. Of the N-acetyl amino ... cause a novel inborn error of metabolism. Am J Hum Genet 78(3):401-409 Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet ... a novel inborn error of metabolism. Biochem Biophys Res Commun 338(3):1322-1326 (Articles with short description, Short ...
Based on its amino acid profile C-5 sterol desaturase appears to have four to five membrane-spanning regions, suggesting that ... 2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ... Silvestro Daniele; Andersen Tonni Grube; Schaller Hubert; Jensen Poul Erik (2013). "Plant sterol metabolism. Delta 7-Sterol-C5- ...
Histidinemia Hyperprolinemia Inborn errors of metabolism Proline Online Mendelian Inheritance in Man (OMIM): 212200 Diseases ... Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases). ... Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). "Inborn errors of carnosine and homocarnosine metabolism". J ... a type of enzyme that splits dipeptides into their two amino acid constituents). Carnosine is a dipeptide composed of beta- ...
April 1999). "Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study". Clin. Chem. ... Cook RJ, Misono KS, Wagner C (October 1985). "The amino acid sequences of the flavin-peptides of dimethylglycine dehydrogenase ... et al., also contains non-heme iron in a ratio of 1 or 2 iron per 300000g of enzyme, and 0.5 mol of acid soluble sulfur ... This leads to a compromised sarcosine metabolism and causes the build-up of sarcosine in blood and urine, a condition known as ...
Almost any homeostatic component can malfunction either as a result of an inherited defect, an inborn error of metabolism, or ... Renin is an enzyme which cleaves a decapeptide (a short protein chain, 10 amino acids long) from a plasma α-2-globulin called ... The polyunsaturated fatty acids (PUFAs) are lipid derivatives of omega-3 (docosahexaenoic acid, DHA, and eicosapentaenoic acid ... An important function is the production and control of bile acids. Too much bile acid can be toxic to cells and its synthesis ...
... information on more than 600 different human diseases and pathway data for more than 200 different inborn errors of metabolism ... such as amino acids, organic acids, nucleic acids, fatty acids, amines, sugars, vitamins, co-factors, pigments, antibiotics, ... Fahy E, Sud M, Cotter D, Subramaniam S (July 2007). "LIPID MAPS online tools for lipid research". Nucleic Acids Research. 35 ( ... "A map of mouse brain metabolism in aging". UC Davis. Retrieved 15 November 2021. Ding, Jun; Ji, Jian; Rabow, Zachary; Shen, ...

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