Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Amino Acid Metabolism, Inborn Errors: 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.Amino Acids: 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, SulfurAmino Acids, Branched-Chain: Amino acids which have a branched carbon chain.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Amino Acid Sequence: 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.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Amino Acids, Essential: Amino acids that are not synthesized by the human body in amounts sufficient to carry out physiological functions. They are obtained from dietary foodstuffs.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Lipid Metabolism: Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.Neonatal Screening: 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, Aromatic: Amino acids containing an aromatic side chain.Purine-Pyrimidine Metabolism, Inborn ErrorsMutation: 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.Metabolome: The dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.Steroid Metabolism, Inborn Errors: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.Energy Metabolism: The chemical reactions involved in the production and utilization of various forms of energy in cells.Fatty Acids: 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)Leucine: An essential branched-chain amino acid important for hemoglobin formation.Molecular Sequence Data: 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.Carbohydrate Metabolism, Inborn ErrorsAmino Acid Substitution: 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.Metabolic Networks and Pathways: Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.Nitrogen: 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.Cloning, Molecular: 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.Metabolomics: 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.Glutamine: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Methionine: A sulfur-containing essential L-amino acid that is important in many body functions.Alanine: 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.Urea Cycle Disorders, Inborn: 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.Ammonia: 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 Diseases, Metabolic, Inborn: 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.Kinetics: The rate dynamics in chemical or physical systems.Glucose: 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.Argininosuccinic Aciduria: 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.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.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.Sequence Alignment: 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.Phenylalanine: An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.Carbon Isotopes: Stable carbon atoms that have the same atomic number as the element carbon, but differ in atomic weight. C-13 is a stable carbon isotope.Transaminases: 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.Maple Syrup Urine Disease: 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)Bacterial Proteins: Proteins found in any species of bacterium.Keto AcidsPhenylketonurias: 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).Gas Chromatography-Mass Spectrometry: A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.Escherichia coli: 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.Dietary Proteins: Proteins obtained from foods. They are the main source of the ESSENTIAL AMINO ACIDS.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Oxidation-Reduction: 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).Isoleucine: 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.Chromatography, High Pressure Liquid: Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.Glycine: 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.Carbon: 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.Models, Biological: 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.Arginine: An essential amino acid that is physiologically active in the L-form.Amino Acid Transport Systems: Cellular proteins and protein complexes that transport amino acids across biological membranes.RNA, Messenger: 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.Smith-Lemli-Opitz Syndrome: 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.Proteins: 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.Carbohydrate Metabolism: Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.Proteome: The protein complement of an organism coded for by its genome.Aspartic Acid: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Ornithine: An amino acid produced in the urea cycle by the splitting off of urea from arginine.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Mass Spectrometry: An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Carbon Radioisotopes: Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.Aminoisobutyric Acids: A group of compounds that are derivatives of the amino acid 2-amino-2-methylpropanoic acid.Infant, Newborn: An infant during the first month after birth.Magnetic Resonance Spectroscopy: 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).Biological Transport: 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.Carnitine: A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.Citric Acid Cycle: 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.Amino Acid Motifs: 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.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Protein Biosynthesis: The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.Insulin: 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).DNA, Complementary: 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.Glutamates: 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.Refractive Errors: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.Arachidonic Acid: 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.DNA: 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).Homogentisate 1,2-Dioxygenase: A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.Valine: 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.Lysine: An essential amino acid. It is often added to animal feed.Bile Acids and Salts: 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.Saccharomyces cerevisiae: 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.Nutritional Requirements: The amounts of various substances in food needed by an organism to sustain healthy life.Homocystinuria: 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)Recombinant Proteins: Proteins prepared by recombinant DNA technology.Transcriptome: The pattern of GENE EXPRESSION at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Cysteine: A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Oligonucleotide Array Sequence Analysis: 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.Plant Proteins: Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.Genes, Bacterial: The functional hereditary units of BACTERIA.Candidiasis, Chronic Mucocutaneous: 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.Methylmalonyl-CoA Mutase: An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.Pyruvate Metabolism, Inborn Errors: 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.Metabolism: The chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (ANABOLISM) and the breakdown (CATABOLISM) of organic materials utilized by the living organism.Rats, Inbred Strains: 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.Crassulaceae: 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, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Cells, Cultured: 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.Brain: 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.Glycolysis: 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.Substrate Specificity: A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.Fabry Disease: 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.Muscle, Skeletal: 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, Gel, Two-Dimensional: 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.Ornithine Carbamoyltransferase Deficiency Disease: 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)Glutamic Acid: A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.Proteomics: The systematic study of the complete complement of proteins (PROTEOME) of organisms.Argininosuccinic Acid: This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide): 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 1.2.4.3.Methylmalonic Acid: 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.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Muscles: Contractile tissue that produces movement in animals.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Sequence Homology, Nucleic Acid: 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.Australian Capital Territory: 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.Protein Conformation: 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).Swine: 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).Peptide Fragments: Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.Isovaleryl-CoA Dehydrogenase: 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).Arachidonic AcidsGlutaratesStructure-Activity Relationship: 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.Protein Binding: 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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Oxidoreductases Acting on CH-CH Group Donors: 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.Sulfur: 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.Culture Media: 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.Hypophosphatasia: 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)Pentanoic AcidsDiet: Regular course of eating and drinking adopted by a person or animal.Brain Diseases, Metabolic: 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.Protein Structure, Tertiary: 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.Gene Expression Regulation, Fungal: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.Starvation: Lengthy and continuous deprivation of food. (Stedman, 25th ed)Cystathionine gamma-Lyase: 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 4.4.1.1.DNA Primers: 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.Diagnostic Errors: Incorrect diagnoses after clinical examination or technical diagnostic procedures.Fasting: Abstaining from all food.Signal Transduction: 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.Multigene Family: 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)Hydroxocobalamin: Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.Metabolic Diseases: 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)Muscle Proteins: The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.Peptides: 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.Carbon Dioxide: A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.Gene Expression Regulation: 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.Lactates: Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.Species Specificity: 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.Oxygen Consumption: 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)Polymerase Chain Reaction: 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.Metal Metabolism, Inborn ErrorsMolecular Weight: The sum of the weight of all the atoms in a molecule.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Threonine: 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.Fructose Metabolism, Inborn Errors: 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.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Cytochrome P-450 Enzyme System: 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.Blood Glucose: Glucose in blood.Betaine-Homocysteine S-Methyltransferase: 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.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Fungal Proteins: Proteins found in any species of fungus.Oxidoreductases: 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)Cattle: 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.Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable.Amidinotransferases: Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.Stress, Physiological: 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.Acyl-CoA Dehydrogenase: 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.Hyperargininemia: 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, Polyacrylamide Gel: Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.Glutaryl-CoA Dehydrogenase: 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.Reverse Transcriptase Polymerase Chain Reaction: 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.DNA-Binding Proteins: 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 Fusion Proteins: 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.Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.Porphyria, Erythropoietic: 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.Tyrosine: A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.Mice, Knockout: 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.Plasmids: 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.Iron Metabolism Disorders: 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)Quaternary Ammonium Compounds: 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.Failure to Thrive: A condition of substandard growth or diminished capacity to maintain normal function.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Point Mutation: 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.Adaptation, Physiological: The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Fermentation: 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.

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 - 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 ...
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.
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 eurobuch.de können Sie antiquarische und Neubücher VERGLEICHEN UND SOFORT zum Bestpreis bestellen. 3805528353
Inborn errors of calcium and bone metabolism : monograph based upon proceedings of the twelfth symposium of the Society for the Study of Inborn Errors of ...
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.
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.
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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 ...
List of amino acid metabolism disorders Inborn error of metabolism "Hyperprolinemia". Genetics Home Reference. National ... This enzyme helps to break down the pyrroline-5-carboxylate produced in the previous reaction, converting it to the amino acid ... Hyperprolinemia, also referred to as prolinemia or prolinuria, is a condition which occurs when the amino acid proline is not ... In particular, individuals with conditions that cause elevated levels of lactic acid in the blood, such as lactic acidemia, are ...
Inborn errors of metabolism Imidazole Aromatic amino acids Imaeda M, Wada Y (1998). "Urocanic aciduria (urocanase deficiency ... The amino acid histidine, when catalyzed by the enzyme histidase, forms urocanic acid. Disruptions in this pathway, caused by a ... In urocanic aciduria, increased urocanic acid in the urine indicates a deficiency of the enzyme urocanase. With normal to only ... It is a secondary disorder of histidine metabolism. Urocanic aciduria is thought to be relatively benign. Although aggressive ...
... (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... The fact that CGMP is a peptide ensures that the absorption rate of its amino acids is prolonged compared to free amino acids ... This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine (Tyr). When PAH activity ... The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this ...
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 ...
... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 --- albinism MeSH C18.452.648.066.102.090 --- albinism, ocular ... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 --- fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ... pyruvate metabolism, inborn errors MeSH C18.452.648.202.810.444 --- leigh disease MeSH C18.452.648.202.810.666 --- pyruvate ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 --- gout MeSH C18.452.648.798.368.410 --- arthritis, gouty ...
... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 --- albinism MeSH C16.320.565.066.102.090 --- albinism, ocular ... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 --- fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ... pyruvate metabolism, inborn errors MeSH C16.320.565.202.810.444 --- leigh disease MeSH C16.320.565.202.810.666 --- pyruvate ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 --- gout MeSH C16.320.565.798.368.410 --- arthritis, gouty ...
List of amino acid metabolism disorders inborn errors of metabolism NKH International Family Network: www.nkh-network.org ... 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 ... making it the second most common disorder of amino acid metabolism, after phenylketonuria. It is caused by a defect in the ...
... 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 ...
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 Paediatr. Jpn. 23 (1): 24-34 ...
... 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. doi: ...
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids. ...
... amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited ... Inborn Errors of Metabolism at Electronic Scholarly Publishing site Vernon, Hilary (Jun 2015). "Inborn Errors of Metabolism: ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority ... detected abnormal amino acid patterns) Guthrie bacterial inhibition assay (detected a few amino acids in excessive amounts in ...
List of amino acid metabolism disorders Schulze, A (February 2003). "Creatine deficiency syndromes". Molecular and cellular ... the first inborn error of creatine metabolism in man" (Free full text). American Journal of Human Genetics. 58 (5): 914-22. ... which participates in the two-step synthesis of the compound creatine from amino acids glycine, arginine and methionine. ... It is the first observed disorder of creatine metabolism. This disorder usually appears in the first few months of life, when ...
... or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the ... amino acid tyrosine. Symptoms include liver and kidney disturbances and intellectual disability. Untreated, tyrosinemia can be ... Alkaptonuria Inborn error of metabolism Ochronosis Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs ... fatal.[citation needed]Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine). Mutations in 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, ... The other amino acids that are not reabsorbed do not create crystals in urine. The overall prevalence of cystinuria is ... transport and metabolism of amino acids. Blood: Routine hemogram along with blood sugar, urea, and creatinine. Urine: For ...
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 ...
Inborn error of amino acid metabolism (E70-E72, 270). K→acetyl-CoA. ... Inborn errors of metabolism. References[edit]. *^ Chambliss, K. L.; Hinson, D. D.; Trettel, F.; Malaspina, P.; Novelletto, A.; ... Saronwala, A.; Tournay, A.; Gargus, J. J. "Genetic inborn error of metabolism provides a unique window into molecular ... an inborn error of GABA metabolism". Neuropediatrics. 29: 14-22. doi:10.1055/s-2007-973527. PMID 9553943.. ...
Inborn error of amino acid metabolism (E70-E72, 270). K→acetyl-CoA. ...
Inborn error of amino acid metabolism (E70-E72, 270). K→acetyl-CoA. ...
Inborn error of amino acid metabolism (E70-E72, 270). K→acetyl-CoA. ... People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine ... Symptoms can be reduced through avoidance of leucine, an amino acid. Leucine is a component of most protein-rich foods; ...
... 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 ...
Measurement of amino acids in plasma or serum is used in the evaluation of disorders of amino acid metabolism such as urea ... In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential ... 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 ...
Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid ... or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible ... Activation and Transportation of Fatty Acids for Metabolism via Carnitine Shuttle Hmr.fo - Faroe Islands Ministry of Health - ... Carnitine is needed to transport long chain fatty acids into the mitochondria, where they can be broken down to produce acetyl- ...
Broquist HP, Trupin JS (1966). "Amino Acid Metabolism". Annual Review of Biochemistry. 35: 231-247. doi:10.1146/annurev.bi. ... and inborn errors". Annals of the New York Academy of Sciences. 573: 137-154. doi:10.1111/j.1749-6632.1989.tb14992.x. PMID ... BCKDC catalyzes an irreversible step in the catabolism of the branched-chain amino acids L-isoleucine, L-valine, and L-leucine ... 2-oxobutyrate and 2-oxobutyrate at comparable rates and with similar Km values as for its branched-chain amino acid substrates ...
... in various inborn errors of metabolism, and intentionally induced via a ketogenic diet, and in ketoacidosis (usually due to ... fatty acids, and amino acids in most vertebrates, including humans. Ketone bodies are elevated in the blood (ketosis) after ... Acid/base properties of ketonesEdit. Ketones are far more acidic (pKa ≈ 20) than a regular alkane (pKa ≈ 50). This difference ... Acids as weak as pyridinium cation (as found in pyridinium tosylate) with a pKa of 5.2 are able to serve as catalysts in this ...
Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake ... Maple syrup urine disease (MSUD) is a hereditary disorder of branched chain amino/keto acid metabolism, caused by a decreased ... Maple syrup urine disease (MSUD) is a rare metabolic disorder, affecting the metabolism of branched chain amino-acids (Valine, ... Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino ...
MAPLE syrup urine disease is a rare inborn error of branched-chain. Consumption of branched-chain amino acids in the form of ... Nutrition4me.com.au has been developed to provide extensive information about many aspects of rare inborn errors of metabolism ... ketoacid buildup is by eliminating the problem amino acids from the diet, but they are three of the "essential" amino acids. ... Amino acid.. Maple syrup urine disease (MSUD) is a rare but serious inherited condition. are first referred to a specialist ...
Several classic inborn errors of metabolism can be detected by the accumulation of certain amino acids as metabolites in body ... The first inborn errors of metabolism, which have been described in the beginning of the 20th century by Sir Archibald Garrod, ... Inborn errors of metabolism are caused by changes in specific enzymatic reactions and hundreds of different such alterations, ... enzyme and metabolite tests from a single patient sample are needed for the efficient diagnosis of inborn errors of metabolism ...
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders. *Amino Acid Metabolism, Inborn Errors ... 208 Studies found for: N-acetylglutamate synthase deficiency OR Amino Acid Metabolism, Inborn Errors ... N-acetylglutamate synthase deficiency OR Amino Acid Metabolism, Inborn Errors (208 records) ... Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency. *Aromatic L-amino Acid Decarboxylase Deficiency ...
Dr Lal PathLabs offers test service for Amino Acid Non Ketotic Hyperglycinemia Panel Test for checking Inborn Errors of ... Metabolism. View details of cost of test, pre-test information and report availability on Dr Lal PathLabs. ... Inborn Errors of Metabolism Specimen. 1 mL (0.5 mL min.) CSF in a sterile screw capped vial AND 2 mL (1 mL min.) plasma from 1 ... AMINO ACID, NON-KETOTIC HYPERGLYCINEMIA PANEL QUANTITATIVE, CSF & PLASMA. Report Availability. Sample by Mon / Wed 5 pm; Report ...
NEUROMETABOLIC EFFECTS OF AN INBORN ERROR OF AMINO-ACID-METABOLISM DEMONSTRATED INVIVO BY H-1-NMR. MAGNET RESON MED , 3 (1) 150 ... NEUROMETABOLIC EFFECTS OF AN INBORN ERROR OF AMINO-ACID-METABOLISM DEMONSTRATED INVIVO BY H-1-NMR ... NEUROMETABOLIC EFFECTS OF AN INBORN ERROR OF AMINO-ACID-METABOLISM DEMONSTRATED INVIVO BY H-1-NMR. ...
... - 25 Studies Found. Status. Study Suspended. Study Name: Ataluren for Nonsense Mutation ... Amino Acid Metabolism, Inborn Errors. Date: 2005-10-10. Recruiting. Study Name: A Clinical Trial for Treatment of Aromatic L- ... Condition: Amino Acid Metabolism, Inborn Errors. Date: 1999-10-18. Interventions: *Behavioral: Protein and calorie controlled ... Condition: Amino Acid Metabolism, Inborn Errors. Date: 2010-06-07. Interventions: Drug: Ataluren (PTC124) Ataluren (PTC124) ...
Amino Acid Metabolism, Inborn Errors. Urea Cycle Disorders, Inborn. Metabolism, Inborn Errors. Acidosis. Propionic Acidemia. ... Urea Cycle Disorders, Inborn Inborn Errors of Metabolism Propionic Acidemia Methylmalonic Acidemia Carbamyl Phosphate ... Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate. The safety and scientific validity of this ... Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators ...
Inborn errors of amino acid metabolism are chiefly inherited as autosomal recessive conditions. Amino acid transport defects ... Inborn Errors of Amino Acid Metabolism Assignment Help & Homework Help - ... Inborn Errors of Amino Acid Metabolism Medical Assignment Help. - Diameties Mellitus and Other Desorder of Metabolism ... Home » Diameties Mellitus and Other Desorder of Metabolism » Inborn Errors of Amino Acid Metabolism ...
Make research projects and school reports about Inborn errors of metabolism easy with credible articles from our FREE, online ... and pictures about Inborn errors of metabolism at Encyclopedia.com. ... Amino acids- Proteins are made up of organic compounds called amino acids. The human body uses amino acids to build and repair ... Inborn Errors of Metabolism. Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the ...
Amino Acid Metabolism, Inborn Errors. Metabolism, Inborn Errors. 4-phenylbutyric acid. Glycerol. Antineoplastic Agents. ... Genetic and Rare Diseases Information Center resources: Urea Cycle Disorders Inborn Amino Acid Metabolism Disorder ... Urea Cycle Disorders, Inborn. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous ... Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic ...
Metabolism, Inborn Errors. Amino Acid Metabolism, Inborn Errors. Acid-Base Imbalance. Metabolic Diseases. Genetic Diseases, ... Genetic and Rare Diseases Information Center resources: Methylmalonic Acidemia Inborn Amino Acid Metabolism Disorder ... Methylmalonic Acidemia (MMA) Metabolism, Inborn Errors Biological: mRNA-3704 Phase 1 Phase 2 ... Elevated plasma methylmalonic acid concentrations (≥ 100 µmol/L). *Presence of normal serum/plasma Vitamin B12 and plasma ...
Inborn errors of amino acid metabolism. * Cardiopulmonary instability. * Hemophagocytic syndrome. WARNINGS AND PRECAUTIONS ... Kabiven and Perikabiven three-chamber bags contain amino acids with electrolytes, dextrose and lipids (Intralipid® 20%). The ... Kabiven and Perikabiven are intravenously infused solutions of lipids, dextrose, amino acids and electrolytes in three-chamber ... Preterm and low birth weight infants have poor clearance of intravenous lipid emulsion and increased free fatty acid plasma ...
keywords = "Amino acid analysis, Amino acid derivatization, Inborn errors of metabolism, Inherited metabolic diseases, Liquid ... Amino and organic acid analysis : Essential tools in the diagnosis of inborn errors of metabolism. / Phipps, William S.; Jones ... Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism. In Advances in Clinical ... Amino and organic acid analysis : Essential tools in the diagnosis of inborn errors of metabolism. Advances in Clinical ...
... maple syrup urine disease and fatty acid oxidation disorders. ... about many aspects of rare inborn errors of metabolism such as ... This site is designed for Australians with an inborn error of metabolism and their carers. These are rare conditions usually ... Information on clinics, patient organisations, travelling and other support for people with inborn errors of metabolism. ...
... maple syrup urine disease and fatty acid oxidation disorders. ... about many aspects of rare inborn errors of metabolism such as ... Information on clinics, patient organisations, travelling and other support for people with inborn errors of metabolism. ...
People who have Inborn Errors of Metabolism (IEM) - Amino Acid cannot break down specific amino acids in protein. They are ... Metabolic Dietary Disorders Association needs your help with "Tony Abbott, Sussan Ley: Reinstate the Inborn Error of Metabolism ... Metabolic Dietary Disorders Association needs your help with "Tony Abbott, Sussan Ley: Reinstate the Inborn Error of Metabolism ... Tony Abbott, Sussan Ley: Reinstate the Inborn Error of Metabolism (IEM) Food Grant ...
ClinicalTrials.gov: Amino Acid Metabolism, Inborn Errors (National Institutes of Health) Journal Articles References and ... Amino Acid Metabolism Disorders (March of Dimes Birth Defects Foundation) * Disorders of Amino Acid Metabolism (Merck & Co., ... your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells ... One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine ...
Amino acids are the building blocks for proteins in the body. ... test done on infants that looks at the amounts of amino acids ... Inborn error of metabolism. *Fructose intolerance. *Ketoacidosis (from diabetes). *Kidney failure. *Reye syndrome ... Plasma amino acids is a screening test done on infants that looks at the amounts of amino acids in the blood. Amino acids are ... Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson ...
Amino Acids, Electrolytes, Dextrose and Lipid Injectable Emulsion for Intravenous Use) may treat, uses, dosage, side effects, ... Inborn error of amino acid metabolism. *Cardiopulmonary instability (including pulmonary edema, cardiac insufficiency, ... In some patients this may indicate hepatic insufficiency or the presence of an inborn error of amino acid metabolism [see ... Protein is provided as amino acids. When infused intravenously amino acids are metabolized and utilized as the building blocks ...
... metabolism, physiology, immunology, reproduction, pathology, and cell biology. In the last half-century, there have been many ... Amino acid biochemistry and nutrition spans a broad range of fields including biochemistry, ... regulation of amino acid metabolism, physiological functions of amino acids, and inborn errors of amino acid metabolism. The ... Dietary Requirements of Amino Acids! I also appreciated the section on what constitutes an essential amino acid (Dr. Wu was ...
Errors in amino acid metabolism, inborn or * Pulmonary edema (fluid in the lungs)-Should not be used in patients with these ... Amino acids and electrolytes with calcium injection is used as dietary supplement for patients who are unable to get enough ... www.mayoclinic.org/drugs-supplements/amino-acids-and-electrolytes-in-dextrose-with-calcium-intravenous-route/side-effects/drg- ... studies performed to date have not demonstrated geriatric-specific problems that would limit the usefulness of amino acids in ...
Professional guide for Amino Acid Formulations for Renal Failure. Includes: pharmacology, pharmacokinetics, contraindications, ... inborn errors of amino acid metabolism ( NephrAmine only); hypersensitivity to 1 or more amino acids in the solution ( ... Amino Acid Formulations for Renal Failure. Pronunciation: a-MEE-noe AS-id. Class: Amino acid combinations ... Elevated plasma amino acid levels (eg, hypermethionemia) and hyperammonemia may occur; consider amino acid formulations ...
Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in ... Inborn errors of sulfur-containing amino acid metabolism. J Nutr. 2006 Jun. 136(6 Suppl):1750S-1754S. [Medline]. ... 3] Two other enzymes involved in sulfur amino acid metabolism have been mapped: 5-methyltetrahydrofolate and L-homocysteine S- ... is the most frequent inborn error of vitamin B-12 metabolism. The gene responsible for cblC, MMACHC, has been identified. ...
Known hypersensitivity to one or more amino acids (4). •. Inborn errors of amino acid metabolism. (4). •. Patients with ... Patients with inborn errors of amino acid metabolism due to risk of severe metabolic or neurologic complications.. •. Patients ... In some patients, this may indicate hepatic insufficiency or the presence of an inborn error of amino acid metabolism [see ... PROSOL 20% (amino acids) injection is a sterile, nonpyrogenic, hypertonic solution of essential and nonessential amino acids ...
  • Appropriate studies performed to date have not demonstrated pediatric-specific problems that would limit the usefulness of amino acids with electrolytes in dextrose with calcium injection in the pediatric population. (mayoclinic.org)
  • Central venous infusion should be considered when amino acid solutions are to be admixed with hypertonic dextrose to promote protein synthesis in hypercatabolic or severely depleted patients, or those requiring long-term parenteral nutrition . (rxlist.com)
  • For moderately catabolic or depleted patients in whom the central venous route is not indicated, diluted amino acid solutions mixed with 5% dextrose solutions may be infused by peripheral vein, supplemented, if desired, with fat emulsion. (rxlist.com)
  • In well-nourished, mildly catabolic patients such as routine postsurgical patients who require only short-term parenteral nutrition , protein sparing can be achieved by peripheral infusion of amino acid solutions with or without dextrose. (rxlist.com)
  • LAKE ZURICH, Ill.--( EON: Enhanced Online News )--Fresenius Kabi announced today it has launched Kabiven ® (amino acids, electrolytes, dextrose and lipid injectable emulsion) for intravenous use, with immediate availability. (enhancedonlinenews.com)
  • Daily folic acid supplementation was added 1 year later because his plasma folate level was low. (medscape.com)
  • The remethylation pathway comprises 2 intersecting biochemical pathways and results in the transfer of a methyl group (CH 3 ) to homocysteine from methylcobalamin, which receives its methyl group from S-adenosylmethionine (SAM), from 5-methyltetrahydrofolate (an active form of folic acid), or from betaine (trimethylglycine). (medscape.com)
  • Folic Acid. (yudu.com)
  • The Metabolic Dietary Disorders Association ( MDDA ) - the national patient support group for families living with an Inborn Error of Metabolism (IEM) - has been advised by the Department of Health today that the IEM food grant (a grant supporting individuals living with rare metabolic diseases) will finish in December 2015 and will no longer be funded by the government. (change.org)
  • Although the AAP report is specific to late preterm, IDM, SGA, and LGA infants, it is reasonable to apply the same guidelines to all the at-risk groups listed above, though higher glucose concentrations should be considered if there is a family history or strong suspicion of inborn errors of metabolism, persistent congenital hyperinsulinemia, or other endocrine disorders. (oncologynurseadvisor.com)
  • There is defective tubular reabsorption and jejunal absorption of most neutral amino acids but not their peptides. (medassignments.com)
  • SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in the kidneys and intestine. (medscape.com)
  • In an animal model of Hartnup disorder, mice lacking SLC6A19 (B 0 AT1) transporter general neutral aminoaciduria were observed, as well as the decreased body weight, demonstrating the essential role of epithelial amino acid uptake in optimal growth and bodyweight regulation. (medscape.com)
  • Mutations in the SLC6A19 gene, which encodes the SLC6A19 (B 0 AT1) neutral amino acid transporter, causes a failure of the transport of neutral (ie, monoaminomonocarboxylic) amino acids in the small intestine and the renal tubules. (medscape.com)
  • Also, neutral amino acids that are not transported are retained within the intestinal lumen where they are converted by bacteria to indolic compounds that can be toxic to the central nervous system. (renalandurologynews.com)
  • It is a sodium dependant and chloride independent neutral amino acid transporter seen predominantly in kidneys and intestine. (ispub.com)
  • Injection: 20% (0.2 grams/mL), 20 grams of amino acids per 100 mL in 2000 mL flexible containers. (nih.gov)