Amino acid metabolism inborn errors. Medical search

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.

Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.

Amino acids which have a branched carbon chain.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.

Amino acids that are not synthesized by the human body in amounts sufficient to carry out physiological functions. They are obtained from dietary foodstuffs.

A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.

Physiological processes in biosynthesis (anabolism) and degradation (catabolism) of LIPIDS.

The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.

Amino acids containing an aromatic side chain.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

The dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.

Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.

The chemical reactions involved in the production and utilization of various forms of energy in cells.

Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)

An essential branched-chain amino acid important for hemoglobin formation.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.

An element with the atomic symbol N, atomic number 7, and atomic weight [14.00643; 14.00728]. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

The systematic identification and quantitation of all the metabolic products of a cell, tissue, organ, or organism under varying conditions. The METABOLOME of a cell or organism is a dynamic collection of metabolites which represent its net response to current conditions.

A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

A sulfur-containing essential L-amino acid that is important in many body functions.

A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.

Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.

The rate dynamics in chemical or physical systems.

A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.

Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.

A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE.

Stable carbon atoms that have the same atomic number as the element carbon, but differ in atomic weight. C-13 is a stable carbon isotope.

A subclass of enzymes of the transferase class that catalyze the transfer of an amino group from a donor (generally an amino acid) to an acceptor (generally a 2-keto acid). Most of these enzymes are pyridoxyl phosphate proteins. (Dorland, 28th ed) EC 2.6.1.

An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)

Proteins found in any species of bacterium.

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

Proteins obtained from foods. They are the main source of the ESSENTIAL AMINO ACIDS.

The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.

A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).

An essential branched-chain aliphatic amino acid found in many proteins. It is an isomer of LEUCINE. It is important in hemoglobin synthesis and regulation of blood sugar and energy levels.

Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.

A nonmetallic element with atomic symbol C, atomic number 6, and atomic weight [12.0096; 12.0116]. It may occur as several different allotropes including DIAMOND; CHARCOAL; and GRAPHITE; and as SOOT from incompletely burned fuel.

Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.

An essential amino acid that is physiologically active in the L-form.

Cellular proteins and protein complexes that transport amino acids across biological membranes.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.

Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES.

The protein complement of an organism coded for by its genome.

One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

An amino acid produced in the urea cycle by the splitting off of urea from arginine.

Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.

An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.

Elements of limited time intervals, contributing to particular results or situations.

Unstable isotopes of carbon that decay or disintegrate emitting radiation. C atoms with atomic weights 10, 11, and 14-16 are radioactive carbon isotopes.

A group of compounds that are derivatives of the amino acid 2-amino-2-methylpropanoic acid.

An infant during the first month after birth.

Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).

The movement of materials (including biochemical substances and drugs) through a biological system at the cellular level. The transport can be across cell membranes and epithelial layers. It also can occur within intracellular compartments and extracellular compartments.

A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.

A series of oxidative reactions in the breakdown of acetyl units derived from GLUCOSE; FATTY ACIDS; or AMINO ACIDS by means of tricarboxylic acid intermediates. The end products are CARBON DIOXIDE, water, and energy in the form of phosphate bonds.

Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.

The parts of a macromolecule that directly participate in its specific combination with another molecule.

The relationships of groups of organisms as reflected by their genetic makeup.

The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.

A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).

Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.

Derivatives of GLUTAMIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the 2-aminopentanedioic acid structure.

Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.

An unsaturated, essential fatty acid. It is found in animal and human fat as well as in the liver, brain, and glandular organs, and is a constituent of animal phosphatides. It is formed by the synthesis from dietary linoleic acid and is a precursor in the biosynthesis of prostaglandins, thromboxanes, and leukotrienes.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

A mononuclear Fe(II)-dependent oxygenase, this enzyme catalyzes the conversion of homogentisate to 4-maleylacetoacetate, the third step in the pathway for the catabolism of TYROSINE. Deficiency in the enzyme causes ALKAPTONURIA, an autosomal recessive disorder, characterized by homogentisic aciduria, OCHRONOSIS and ARTHRITIS. This enzyme was formerly characterized as EC 1.13.1.5 and EC 1.99.2.5.

A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.

An essential amino acid. It is often added to animal feed.

Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.

A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

The amounts of various substances in food needed by an organism to sustain healthy life.

Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Proteins prepared by recombinant DNA technology.

The pattern of GENE EXPRESSION at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.

An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.

A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.

Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.

The functional hereditary units of BACTERIA.

A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.

An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.

Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.

The chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (ANABOLISM) and the breakdown (CATABOLISM) of organic materials utilized by the living organism.

Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations or by parent x offspring matings carried out with certain restrictions. This also includes animals with a long history of closed colony breeding.

The stonecrop plant family of the order ROSALES, subclass Rosidae, class Magnoliopsida that grow in warm, dry regions. The leaves are thick. The flower clusters are red, yellow, or white.

Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.

Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.

Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

A metabolic process that converts GLUCOSE into two molecules of PYRUVIC ACID through a series of enzymatic reactions. Energy generated by this process is conserved in two molecules of ATP. Glycolysis is the universal catabolic pathway for glucose, free glucose, or glucose derived from complex CARBOHYDRATES, such as GLYCOGEN and STARCH.

A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.

Electrophoresis in which a second perpendicular electrophoretic transport is performed on the separate components resulting from the first electrophoresis. This technique is usually performed on polyacrylamide gels.

An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.

The systematic study of the complete complement of proteins (PROTEOME) of organisms.

This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.

A ketone oxidoreductase that catalyzes the overall conversion of alpha-keto acids to ACYL-CoA and CO2. The enzyme requires THIAMINE DIPHOSPHATE as a cofactor. Defects in genes that code for subunits of the enzyme are a cause of MAPLE SYRUP URINE DISEASE. The enzyme was formerly classified as EC 1.2.4.3.

A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.

Established cell cultures that have the potential to propagate indefinitely.

Contractile tissue that produces movement in animals.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

A territory of Australia consisting of Canberra, the national capital and surrounding land. It lies geographically within NEW SOUTH WALES and was established by law in 1988.

The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).

Any of various animals that constitute the family Suidae and comprise stout-bodied, short-legged omnivorous mammals with thick skin, usually covered with coarse bristles, a rather long mobile snout, and small tail. Included are the genera Babyrousa, Phacochoerus (wart hogs), and Sus, the latter containing the domestic pig (see SUS SCROFA).

Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.

A mitochondrial flavoprotein, this enzyme catalyzes the oxidation of 3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA using FAD as a cofactor. Defects in the enzyme, is associated with isovaleric acidemia (IVA).

The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

A subclass of enzymes which includes all dehydrogenases acting on carbon-carbon bonds. This enzyme group includes all the enzymes that introduce double bonds into substrates by direct dehydrogenation of carbon-carbon single bonds.

An element that is a member of the chalcogen family. It has an atomic symbol S, atomic number 16, and atomic weight [32.059; 32.076]. It is found in the amino acids cysteine and methionine.

Any liquid or solid preparation made specifically for the growth, storage, or transport of microorganisms or other types of cells. The variety of media that exist allow for the culturing of specific microorganisms and cell types, such as differential media, selective media, test media, and defined media. Solid media consist of liquid media that have been solidified with an agent such as AGAR or GELATIN.

A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)

Regular course of eating and drinking adopted by a person or animal.

Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.

The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.

Lengthy and continuous deprivation of food. (Stedman, 25th ed)

A multifunctional pyridoxal phosphate enzyme. In the final step in the biosynthesis of cysteine it catalyzes the cleavage of cystathionine to yield cysteine, ammonia, and 2-ketobutyrate. EC 4.4.1.1.

Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.

Incorrect diagnoses after clinical examination or technical diagnostic procedures.

Abstaining from all food.

The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.

Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)

The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.

Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.

A colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.

The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.

The rate at which oxygen is used by a tissue; microliters of oxygen STPD used per milligram of tissue per hour; the rate at which oxygen enters the blood from alveolar gas, equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body. (Stedman, 25th ed, p346)

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

The sum of the weight of all the atoms in a molecule.

Transport proteins that carry specific substances in the blood or across cell membranes.

An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins.

Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.

The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.

A superfamily of hundreds of closely related HEMEPROTEINS found throughout the phylogenetic spectrum, from animals, plants, fungi, to bacteria. They include numerous complex monooxygenases (MIXED FUNCTION OXYGENASES). In animals, these P-450 enzymes serve two major functions: (1) biosynthesis of steroids, fatty acids, and bile acids; (2) metabolism of endogenous and a wide variety of exogenous substrates, such as toxins and drugs (BIOTRANSFORMATION). They are classified, according to their sequence similarities rather than functions, into CYP gene families (>40% homology) and subfamilies (>59% homology). For example, enzymes from the CYP1, CYP2, and CYP3 gene families are responsible for most drug metabolism.

Glucose in blood.

A ZINC metalloenzyme that catalyzes the transfer of a methyl group from BETAINE to HOMOCYSTEINE to produce dimethylglycine and METHIONINE, respectively. This enzyme is a member of a family of ZINC-dependent METHYLTRANSFERASES that use THIOLS or selenols as methyl acceptors.

Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

Proteins found in any species of fungus.

The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)

Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.

The processes whereby the internal environment of an organism tends to remain balanced and stable.

Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.

The unfavorable effect of environmental factors (stressors) on the physiological functions of an organism. Prolonged unresolved physiological stress can affect HOMEOSTASIS of the organism, and may lead to damaging or pathological conditions.

A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)

Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.

A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.

A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.

Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.

Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.

The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.

An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.

Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)

Derivatives of ammonium compounds, NH4+ Y-, in which all four of the hydrogens bonded to nitrogen have been replaced with hydrocarbyl groups. These are distinguished from IMINES which are RN=CR2.

A condition of substandard growth or diminished capacity to maintain normal function.

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.

Biochemical identification of mutational changes in a nucleotide sequence.

Anaerobic degradation of GLUCOSE or other organic nutrients to gain energy in the form of ATP. End products vary depending on organisms, substrates, and enzymatic pathways. Common fermentation products include ETHANOL and LACTIC ACID.

A tripeptide with many roles in cells. It conjugates to drugs to make them more soluble for excretion, is a cofactor for some enzymes, is involved in protein disulfide bond rearrangement and reduces peroxides.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

List of amino acid metabolism disorders Inborn error of metabolism "Hyperprolinemia". Genetics Home Reference. National ... Amino acid metabolism disorders, Autosomal recessive disorders, Disorders causing seizures, Rare diseases). ... This enzyme helps to break down the pyrroline-5-carboxylate produced in the previous reaction, converting it to the amino acid ... Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline ...

https://en.wikipedia.org/wiki/Hyperprolinemia

List of amino acid metabolism disorders inborn errors of metabolism Sarafoglou, Kyriakie; Hoffmann, Georg F.; Roth, Karl S. ( ... Amino acid metabolism disorders, Inborn errors of metabolism, Autosomal recessive disorders, Rare diseases). ... Standard evaluation for inborn errors of metabolism and other causes of this presentation does not reveal any abnormality (no ... After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is ...

https://en.wikipedia.org/wiki/Glycine_encephalopathy

Inborn errors of metabolism Imidazole Aromatic amino acids Recessive disorders Imaeda M, Wada Y (1998). "Urocanic aciduria ( ... The amino acid histidine, when catalyzed by the enzyme histidase, forms urocanic acid. Disruptions in this pathway, caused by a ... Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases). ... It is a secondary disorder of histidine metabolism. Urocanic aciduria is thought to be relatively benign. Although aggressive ...

https://en.wikipedia.org/wiki/Urocanic_aciduria

... the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase catalyzes the conversion of L-phenylalanine to ... Biopterin-dependent aromatic amino acid hydroxylases (AAAH) are a family of aromatic amino acid hydroxylase enzymes which ... Each AAAH enzyme contains iron and catalyzes the ring hydroxylation of aromatic amino acids using tetrahydrobiopterin (BH4) as ... functional domains and evolution of aromatic amino acid hydroxylases". Proc. Natl. Acad. Sci. U.S.A. 84 (16): 5530-4. Bibcode: ...

https://en.wikipedia.org/wiki/Biopterin-dependent_aromatic_amino_acid_hydroxylase

Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids. ... Amino acid metabolism disorders, All stub articles, Endocrine, nutritional and metabolic disease stubs). ... Alkaptonuria Aspartylglucosaminuria Branched-chain keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup ...

https://en.wikipedia.org/wiki/Congenital_disorders_of_amino_acid_metabolism

Inborn errors of metabolism, Amino acid metabolism disorders, Autosomal recessive disorders). ... is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. ... Measurement of urine amino acid concentrations is sometimes necessary, particularly in neonatal onset cases to identify the ... Upon clinical suspicion, diagnostic testing will often consist of measurement of amino acid concentrations in plasma, in search ...

https://en.wikipedia.org/wiki/Ornithine_aminotransferase_deficiency

... (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... Amino acid metabolism disorders, Skin conditions resulting from errors in metabolism, Disorders causing seizures, Biology of ... The fact that CGMP is a peptide ensures that the absorption rate of its amino acids is prolonged compared to free amino acids ... The enzyme phenylalanine hydroxylase normally converts the amino acid phenylalanine into the amino acid tyrosine. If this ...

https://en.wikipedia.org/wiki/Phenylketonuria

v t e (Articles with short description, Short description is different from Wikidata, Amino acid metabolism disorders, All stub ... Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as ... salts or amino acids, to be transported across the brush border of the renal tubule. This results in disruptions of renal ...

https://en.wikipedia.org/wiki/Inborn_errors_of_renal_tubular_transport

... amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited ... Disorders of carbohydrate metabolism glycogen storage disease G6PD deficiency Disorders of amino acid metabolism ... detects abnormal amino acid patterns) Guthrie test (detects excessive amounts of specific amino acids in blood) The dried blood ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The ...

https://en.wikipedia.org/wiki/Inborn_errors_of_metabolism

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 ...

https://en.wikipedia.org/wiki/List_of_disorders_included_in_newborn_screening_programs

... 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 ...

https://en.wikipedia.org/wiki/Methylmalonyl_CoA_epimerase

... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty ... amino acid transport disorders, inborn MeSH C18.452.648.088.400 - hartnup disease MeSH C18.452.648.088.600 - oculocerebrorenal ... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)

... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty ... amino acid transport disorders, inborn MeSH C16.320.565.088.400 - Hartnup disease MeSH C16.320.565.088.600 - oculocerebrorenal ... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)

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 ...

https://en.wikipedia.org/wiki/List_of_diseases_(I)

... occurs as the result of an inborn error of metabolism that may result in either an inactive or a severely reduced ... Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple ... However, histidinemia is considered the most prevalent inborn error of metabolism with a reported incidence of 1:8600 (Quebec ... "Experience and problems of newborn mass screening for inborn errors of metabolism in Japan". Acta Paediatrica Japonica. 23 (1 ...

https://en.wikipedia.org/wiki/Histidinemia

... urine amino acids - used to test for some inborn errors of metabolism Brunzel 2018, pp. 19-22. Armstrong, J.A. (2007). " ... and testing for organic acids or amino acids in urine can be used to screen for some genetic disorders. The techniques used to ... ISBN 978-1-4963-2016-2. Reddi, A.S. (2014). Fluid, electrolyte, and acid-base disorders: clinical evaluation and management. ... used to help diagnose monoclonal gammopathies Urine organic acids, ...

https://en.wikipedia.org/wiki/Urine_test

Alkaptonuria Inborn error of metabolism Ochronosis Shaw K, Bachur R (2016). Fleisher & Ludwig's Textbook of Pediatric Emergency ... usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms of untreated tyrosinemia ... Journal of Inborn Errors of Metabolism. 5 (1): 1-4. doi:10.1177/2326409817744230. Retrieved 12 March 2019. Grompe M (2016-12-20 ... Amino acid metabolism disorders, Autosomal recessive disorders). ... Tyrosinemia or tyrosinaemia is an error of metabolism, ...

https://en.wikipedia.org/wiki/Tyrosinemia

... an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine Wolff also provided the ...

https://en.wikipedia.org/wiki/Otto_Herbert_Wolff

It is one of several inborn errors of metabolism included in the Garrod's tetrad. The disease is attributed to deficiency in ... amino acids: cystine, lysine, ornithine, arginine. Under normal circumstances, this protein allows certain amino acids, ... Amino acid metabolism disorders, Autosomal recessive disorders, Membrane transport protein disorders). ... The other amino acids that are not reabsorbed do not create crystals in urine.[citation needed] The overall prevalence of ...

https://en.wikipedia.org/wiki/Cystinuria

CS1 errors: generic name, Amino acid metabolism disorders, Autosomal recessive disorders, Disorders causing seizures). ... Inborn metabolic diseases diagnosis and treatment (5th ed.). Berlin: Springer. ISBN 9783642157202. Retrieved 28 November 2016 ... Urinary orotic acid concentration Red blood cell arginase enzyme activity (measurement) The treatment for infants (individuals ... Protein intake limited Sodium benzoate Sodium phenylbutyrate Carglumic acid Glycerol phenylbutyrate Palonosetron Ondansetron ...

https://en.wikipedia.org/wiki/Argininemia

As an inborn error of metabolism, Tyrosinemia type I stems from a deficiency in the enzymatic catabolic pathway of ... These hydrolytic reactions are essential during aromatic amino acid human metabolism. Furthermore, FAH does not share known ... Mutations spread across the FAH gene observes clusters of amino acid residues such as alanine and aspartic acid residues. ... The FAH gene is thought to be involved in the catabolism of the amino acid phenylalanine in humans. Fumarylacetoacetate ...

https://en.wikipedia.org/wiki/Fumarylacetoacetate_hydrolase

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 ...

https://en.wikipedia.org/wiki/Aminoaciduria

... 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 ...

https://en.wikipedia.org/wiki/GCSH

Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid ... Systemic primary carnitine deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter ... newbornscreening.info Activation and Transportation of Fatty Acids for Metabolism via Carnitine Shuttle "#212140; Carnitine ... Carnitine is needed to transport long chain fatty acids into the mitochondria, where they can be broken down to produce acetyl- ...

https://en.wikipedia.org/wiki/Systemic_primary_carnitine_deficiency

Measurement of amino acids in plasma or serum is used in the evaluation of disorders of amino acid metabolism such as urea ... Full genome sequencing Inborn error of metabolism Predictive medicine "American Board of Medical Genetics and Genomics". abmgg. ... These compounds are normally produced during bodily metabolism of amino acids and odd-chain fatty acids, but accumulate in ... Ammonia is an end product of amino acid metabolism and is converted in the liver to urea through a series of enzymatic ...

https://en.wikipedia.org/wiki/Medical_genetics

... disorders Peroxisomal disorder Glucose transporter defect Menkes disease Congenital disorders of amino acid metabolism Organic ... diabetes Hyperthermia Maternal hypothyroidism Placental insufficiency Craniosynostosis Genetic Inborn errors of metabolism ... Because some cases of microcephaly and its associated symptoms may be a result of amino acid deficiencies, treatment with amino ... PMID 18458003 de Koning, T. J. (2006). "Treatment with amino acids in serine deficiency disorders". Journal of Inherited ...

https://en.wikipedia.org/wiki/Microcephaly

ISBN 978-0-07-182537-5. Broquist HP, Trupin JS (1966). "Amino Acid Metabolism". Annual Review of Biochemistry. 35: 231-247. doi ... and inborn errors". Annals of the New York Academy of Sciences. 573: 137-154. doi:10.1111/j.1749-6632.1989.tb14992.x. PMID ... may result in over-activation of the complex and excessive catabolism of the three amino acids. This leads to branched-chain ... BCKDC catalyzes an irreversible step in the catabolism of the branched-chain amino acids L-isoleucine, L-valine, and L-leucine ...

https://en.wikipedia.org/wiki/Branched-chain_alpha-keto_acid_dehydrogenase_complex

The metabolism and conjugation of phenylacetate with glutamine in the liver involves amino acid acetylation carried out by the ... within patients with hyperammonemia and inborn errors in urea synthesis. Phenylacetylglutamine levels in the urine serves as a ... circulated and retained in the blood after microbial fermentation of certain proteins and amino acids in the gut. Blood serum ... High levels of phenylacetylglutamine in the urine following metabolism by the gut microbiota may also indicate early renal ...

https://en.wikipedia.org/wiki/Phenylacetylglutamine

Articles with short description, Short description is different from Wikidata, Amino acid metabolism disorders, Autosomal ... Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. ( ... 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. ...

https://en.wikipedia.org/wiki/Tyrosinemia_type_III

Nyhan WL (1997). "The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism" (PDF). J. Inherit. Metab. ... Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3- ... "A familial disorder of uric acid metabolism and central nervous system function". Am. J. Med. 36 (4): 561-70. doi:10.1016/0002- ...

https://en.wikipedia.org/wiki/William_Nyhan

... lack all amino acid synthesis and take their amino acids directly from their hosts. All amino acids are synthesized from ... Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... Amino acids also contribute to cellular energy metabolism by providing a carbon source for entry into the citric acid cycle ( ... amino acids can be linked in varying sequences to form a huge variety of proteins. Proteins are made from amino acids that have ...

https://en.wikipedia.org/wiki/Metabolism

... or hematin and glucose can abort attacks of acute intermittent porphyria in patients with an inborn error of metabolism of this ... from the amino acid glycine and succinyl-CoA from the citric acid cycle (Krebs cycle). The rate-limiting enzyme responsible for ... In addition, a unique sulfonamide ion linkage between the sulfur of a methionyl amino-acid residue and the heme 2-vinyl group ... For example, the ability of hemoglobin to effectively deliver oxygen to tissues is due to specific amino acid residues located ...

https://en.wikipedia.org/wiki/Heme

Inborn errors of metal metabolism, Hepatology, Autosomal recessive disorders, Iron metabolism). ... of ceruloplasmin protein that is unstable or nonfunctional by altering the open reading frame such that the amino acid ligands ... Human iron metabolism Iron overload disorder "Aceruloplasminemia , Genetic and Rare Diseases Information Center (GARD) - an ... molecular characterization of this disorder of iron metabolism". Proceedings of the National Academy of Sciences of the United ...

https://en.wikipedia.org/wiki/Aceruloplasminemia

Ristoff E, Larsson A (2007). "Inborn errors in the metabolism of glutathione". Orphanet Journal of Rare Diseases. 2: 16. doi: ... This enzyme belongs to the family of ligases, specifically those forming carbon-nitrogen bonds as acid-D-amino-acid ligases ( ... This enzyme participates in glutamate metabolism and glutathione metabolism. At least one compound, Phosphinate is known to ... Then the amino group of glycine participates in a nucleophilic attack, displacing the phosphate group and forming GSH. After ...

https://en.wikipedia.org/wiki/Glutathione_synthetase

The insufficiency of L-xylulose reductase activity causes an inborn error of metabolism disease characterized by excessive ... The DCXR gene encodes a membrane protein that is approximately 34 kDa in size and composed of 224 amino acids. The protein is ... The enzyme is involved in carbohydrate metabolism, glucose metabolism, the uronate cycle and may play a role in the water ...

https://en.wikipedia.org/wiki/L-xylulose_reductase

"Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism". Journal of Inherited Metabolic ... is a post-translational modification that is characterized by the addition of a propionyl-group to a lysine amino acid residue ...

https://en.wikipedia.org/wiki/Propionylation

Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 153-161. ISBN 978-0-07- ... Amino acid metabolism disorders). ...

https://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase_deficiency

... and ambiguous genitalia Inborn errors of steroid metabolism 5α-Reductase (I, II) Androgen (testosterone and dihydrotestosterone ... 5αR2 consists of 254 amino acid residues with reported mutations at 67 of them with multiple different mutations at some ... Metabolism. 81 (1): 384-389. doi:10.1210/jcem.81.1.8550782. PMID 8550782. Thigpen, A E; Silver, R I; Guileyardo, J M; Casey, M ... Metabolism. 96 (2): 296-307. doi:10.1210/jc.2010-1024. PMID 21147889. Chan, Angel On Kei; But, Betty Wai Man; Lee, Ching Yin; ...

https://en.wikipedia.org/wiki/5α-Reductase_2_deficiency

For amino acid metabolism, methylmalonyl-CoA mutase works in the degradation pathways of isoleucine, threonine, valine, and ... with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism ... All these propionyl-CoA substrates are converted to succinyl-CoA following the methylmalonyl pathway For amino acid metabolism ... These amino acids are degraded into propanoyl-CoA which is then further degraded into (S)-methylmalonyl-CoA. This substrate ...

https://en.wikipedia.org/wiki/Methylmalonyl-CoA_mutase_deficiency

Homocystinuria Cysteine Metabolism Amino acid S-Adenosyl-L-methionine Heme GRCh38: Ensembl release 89: ENSG00000160200 - ... Inborn errors in CBS result in hyperhomocysteinemia with complications in the cardiovascular system leading to early and ... The heme domain is composed of 70 amino acids and it appears that the heme only exists in mammalian CBS and is absent in yeast ... The human enzyme cystathionine β-synthase is a tetramer and comprises 551 amino acids with a subunit molecular weight of 61 kDa ...

https://en.wikipedia.org/wiki/Cystathionine_beta_synthase

... and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism". ... Like some amino acids, sarcosine converts to a cation at low pH and an anion at high pH, with the respective formulas CH3N+(H) ... Sarcosine is an amino acid derivative that is naturally found in muscles and other body tissues. In the laboratory, it may be ... "Formate Metabolism in Health and Disease". Molecular Metabolism. 33: 23-37. doi:10.1016/j.molmet.2019.05.012. PMC 7056922. PMID ...

https://en.wikipedia.org/wiki/Sarcosine

This is an autosomal recessive inborn error of metabolism. It is caused by a mutation in the gene that codes for the synthesis ... amino acids acquired through dietary protein consumption. When 4-maleylacetoacetate isomerase is unable to function properly, ... "3,5-Dioxooctanedioic acid". PubChem Compound Database. National Center for Biotechnology Information. U.S. National Library of ...

https://en.wikipedia.org/wiki/Maleylacetoacetate_isomerase

... many similar to human inborn errors of metabolism. The high level of similarity among the metabolism of mammals allows many of ... Their taste buds instead respond to acids, amino acids like protein, and bitter tastes. Cats also have a distinct temperature ... they dislike chilled foods and respond most strongly to moist foods rich in amino acids, which are similar to meat. Cats reject ...

https://en.wikipedia.org/wiki/Cat

Amino acid metabolism disorders, Autosomal recessive disorders, Skin conditions resulting from errors in metabolism). ... doi:10.1016/s0140-6736(01)78041-5. Garrod AE (1909). Inborn errors of metabolism. Oxford University Press. OL 7116744M. Kean, ... The HGD enzyme is involved in the metabolism (chemical processing) of the aromatic amino acids phenylalanine and tyrosine. ... Garrod AE (1908). "The Croonian lectures on inborn errors of metabolism: lecture II: alkaptonuria". Lancet. 2 (4428): 73-79. ...

https://en.wikipedia.org/wiki/Alkaptonuria

Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230. "Tyrosinemia type 2". ... Amino acid metabolism disorders, Autosomal recessive disorders, Palmoplantar keratodermas, All stub articles, Cutaneous ...

https://en.wikipedia.org/wiki/Tyrosinemia_type_II

Ghaziuddin, Mohammad; Al-Owain, Mohammed (2013). "Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update". ... The amino acid sequence that encodes DHCR7 is predicted to contain 475 amino acids, as well as several protein motifs. It ... Much depends on the nature of the mutation (i.e. which amino acid is replaced and where). Null mutations are much less common, ... Missense mutations (single nucleotide change resulting in a code for a different amino acid) are the most common, accounting ...

https://en.wikipedia.org/wiki/Smith–Lemli–Opitz_syndrome

... is a rare inborn error of metabolism. To date only 21 cases have been described. The clinical picture ... is a zinc binding enzyme which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid. Of the N-acetyl amino ... cause a novel inborn error of metabolism. Am J Hum Genet 78(3):401-409 Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet ... a novel inborn error of metabolism. Biochem Biophys Res Commun 338(3):1322-1326 (Articles with short description, Short ...

https://en.wikipedia.org/wiki/Aminoacylase_1_deficiency

Based on its amino acid profile C-5 sterol desaturase appears to have four to five membrane-spanning regions, suggesting that ... 2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ... Silvestro Daniele; Andersen Tonni Grube; Schaller Hubert; Jensen Poul Erik (2013). "Plant sterol metabolism. Delta 7-Sterol-C5- ...

https://en.wikipedia.org/wiki/C-5_sterol_desaturase

Histidinemia Hyperprolinemia Inborn errors of metabolism Proline Online Mendelian Inheritance in Man (OMIM): 212200 Diseases ... Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases). ... Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). "Inborn errors of carnosine and homocarnosine metabolism". J ... a type of enzyme that splits dipeptides into their two amino acid constituents). Carnosine is a dipeptide composed of beta- ...

https://en.wikipedia.org/wiki/Carnosinemia

April 1999). "Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study". Clin. Chem. ... Cook RJ, Misono KS, Wagner C (October 1985). "The amino acid sequences of the flavin-peptides of dimethylglycine dehydrogenase ... et al., also contains non-heme iron in a ratio of 1 or 2 iron per 300000g of enzyme, and 0.5 mol of acid soluble sulfur ... This leads to a compromised sarcosine metabolism and causes the build-up of sarcosine in blood and urine, a condition known as ...

https://en.wikipedia.org/wiki/Sarcosine_dehydrogenase

Almost any homeostatic component can malfunction either as a result of an inherited defect, an inborn error of metabolism, or ... Renin is an enzyme which cleaves a decapeptide (a short protein chain, 10 amino acids long) from a plasma α-2-globulin called ... The polyunsaturated fatty acids (PUFAs) are lipid derivatives of omega-3 (docosahexaenoic acid, DHA, and eicosapentaenoic acid ... An important function is the production and control of bile acids. Too much bile acid can be toxic to cells and its synthesis ...

https://en.wikipedia.org/wiki/Homeostasis

... information on more than 600 different human diseases and pathway data for more than 200 different inborn errors of metabolism ... such as amino acids, organic acids, nucleic acids, fatty acids, amines, sugars, vitamins, co-factors, pigments, antibiotics, ... Fahy E, Sud M, Cotter D, Subramaniam S (July 2007). "LIPID MAPS online tools for lipid research". Nucleic Acids Research. 35 ( ... "A map of mouse brain metabolism in aging". UC Davis. Retrieved 15 November 2021. Ding, Jun; Ji, Jian; Rabow, Zachary; Shen, ...

https://en.wikipedia.org/wiki/Metabolome

Anatomy9

Organisms12

Diseases39

Chemicals and Drugs100

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Psychiatry and Psychology1

Phenomena and Processes62

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Named Groups1

Health Care2

Geographicals1

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

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

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

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

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)

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

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)

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

No FAQ available that match "amino acid metabolism inborn errors"

No images available that match "amino acid metabolism inborn errors"

Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

Amino Acids

Amino Acids, Sulfur

Amino Acids, Branched-Chain

Sequence Homology, Amino Acid

Amino Acid Sequence

Lipid Metabolism, Inborn Errors

Amino Acids, Essential

Liver

Lipid Metabolism

Neonatal Screening

Amino Acids, Aromatic

Purine-Pyrimidine Metabolism, Inborn Errors

Mutation

Metabolome

Steroid Metabolism, Inborn Errors

Energy Metabolism

Fatty Acids

Leucine

Molecular Sequence Data

Carbohydrate Metabolism, Inborn Errors

Amino Acid Substitution

Metabolic Networks and Pathways

Nitrogen

Cloning, Molecular

Metabolomics

Glutamine

Base Sequence

Methionine

Alanine

Urea Cycle Disorders, Inborn

Ammonia

Brain Diseases, Metabolic, Inborn

Kinetics

Glucose

Argininosuccinic Aciduria

Hyperammonemia

Urea

Sequence Alignment

Phenylalanine

Carbon Isotopes

Transaminases

Maple Syrup Urine Disease

Bacterial Proteins

Keto Acids

Phenylketonurias

Gas Chromatography-Mass Spectrometry

Escherichia coli

Dietary Proteins

Gene Expression Profiling

Oxidation-Reduction

Isoleucine

Chromatography, High Pressure Liquid

Glycine

Carbon

Models, Biological

Arginine

Amino Acid Transport Systems

RNA, Messenger

Smith-Lemli-Opitz Syndrome

Proteins

Carbohydrate Metabolism

Proteome

Aspartic Acid

Phenotype

Ornithine

Gene Expression Regulation, Bacterial

Mass Spectrometry

Time Factors

Carbon Radioisotopes

Aminoisobutyric Acids

Infant, Newborn

Magnetic Resonance Spectroscopy

Biological Transport

Carnitine

Citric Acid Cycle

Amino Acid Motifs

Binding Sites

Phylogeny