Argininosuccinic Acid: This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.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.Argininosuccinate Lyase: An enzyme of the urea cycle which splits argininosuccinate to fumarate plus arginine. Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1.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.Argininosuccinate Synthase: An enzyme of the urea cycle that catalyzes the formation of argininosuccinic acid from citrulline and aspartic acid in the presence of ATP. Absence or deficiency of this enzyme causes the metabolic disease CITRULLINEMIA in humans. EC 6.3.4.5.Arginine: An essential amino acid that is physiologically active in the L-form.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.Mallory Bodies: Cytoplasmic hyaline inclusions in HEPATOCYTES. They are associated with ALCOHOLIC STEATOHEPATITIS and non-alcoholic STEATOHEPATITIS, but are also present in benign and malignant hepatocellular neoplasms, and metabolic, toxic, and chronic cholestatic LIVER DISEASES.Sarcosine: An amino acid intermediate in the metabolism of choline.Alexander Disease: Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.Speech-Language Pathology: The study of speech or language disorders and their diagnosis and correction.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.Thiamine Deficiency: A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171)Pyruvic Acid: An intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)Thiamine: 3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2- hydroxyethyl)-4-methylthiazolium chloride.Pyrithiamine: A thiamine antagonist due to its inhibition of thiamine pyrophosphorylation. It is used to produce thiamine deficiency.Transketolase: An enzyme of the transferase class that catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate in the PENTOSE PHOSPHATE PATHWAY. (Dorland, 27th ed) EC 2.2.1.1.Tryptophan Transaminase: A PYRIDOXAL PHOSPHATE containing enzyme that catalyzes the transfer amino group from L-TRYPTOPHAN to 2-oxoglutarate in order to generate indolepyruvate and L-GLUTAMATE.Wernicke Encephalopathy: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)PhenylbutyratesOrnithine 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)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.Dietary Proteins: Proteins obtained from foods. They are the main source of the ESSENTIAL AMINO ACIDS.Phenylacetates: Derivatives of phenylacetic acid. Included under this heading are a variety of acid forms, salts, esters, and amides that contain the benzeneacetic acid structure. Note that this class of compounds should not be confused with derivatives of phenyl acetate, which contain the PHENOL ester of ACETIC ACID.Ornithine Carbamoyltransferase: A urea cycle enzyme that catalyzes the formation of orthophosphate and L-citrulline (CITRULLINE) from CARBAMOYL PHOSPHATE and L-ornithine (ORNITHINE). Deficiency of this enzyme may be transmitted as an X-linked trait. EC 2.1.3.3.Amino Acids, Peptides, and Proteins: Amino acids and chains of amino acids connected by peptide linkages.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Peroxisomal Disorders: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.Acyl-CoA Dehydrogenase, Long-Chain: A flavoprotein oxidoreductase that has specificity for long-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Sodium Benzoate: The sodium salt of BENZOIC ACID. It is used as an antifungal preservative in pharmaceutical preparations and foods. It may also be used as a test for liver function.Orotic AcidRabbits: The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).Adenylosuccinate Lyase: An enzyme that, in the course of purine ribonucleotide biosynthesis, catalyzes the conversion of 5'-phosphoribosyl-4-(N-succinocarboxamide)-5-aminoimidazole to 5'-phosphoribosyl-4-carboxamide-5-aminoimidazole and the conversion of adenylosuccinic acid to AMP. EC 4.3.2.2.Antibody Specificity: The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.Antibodies, Monoclonal: Antibodies produced by a single clone of cells.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.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.Information Centers: Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.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)Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)Patient-Centered Care: Design of patient care wherein institutional resources and personnel are organized around patients rather than around specialized departments. (From Hospitals 1993 Feb 5;67(3):14)Disabled Children: Children with mental or physical disabilities that interfere with usual activities of daily living and that may require accommodation or intervention.CitrullinePyruvate Carboxylase Deficiency Disease: An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)Carbamoyl-Phosphate Synthase (Ammonia): An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea cycle. Absence or lack of this enzyme may cause CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE. EC 6.3.4.16.Amino-Acid N-Acetyltransferase: A mitochondrial matrix enzyme that catalyzes the synthesis of L-GLUTAMATE to N-acetyl-L-glutamate in the presence of ACETYL-COA.

Influence of nitric oxide on vascular resistance and muscle mechanics during tetanic contractions in situ. (1/25)

Studies of the effect of nitric oxide (NO) synthesis inhibition were performed in the isometrically contracting blood-perfused canine gastrocnemius-plantaris muscle group. Muscle blood flow (Q) was controlled with a pump during continuous NO blockade produced with either 1 mM L-argininosuccinic acid (L-ArgSA) or N(G)-nitro-L-arginine methyl ester (L-NAME) during repetitive tetanic contractions (50-Hz trains, 200-ms duration, 1/s). Pump Q was set to match maximal spontaneous Q (1.3-1.4 ml. min(-1). g(-1)) measured in prior, brief (3-5 min) control contraction trials in each muscle. Active tension and oxygen uptake were 500-600 g/g and 200-230 microl. min(-1). g(-1), respectively, under these conditions. Within 3 min of L-ArgSA infusion, vascular resistance across the muscle (R(v)) increased significantly (from approximately 100 to 300 peripheral resistance units; P < 0.05), whereas R(v) increased to a lesser extent with L-NAME (from approximately 100 to 175 peripheral resistance units; P < 0.05). The increase in R(v) with L-ArgSA was unchanged by simultaneous infusion of 0.5-10 mM L-arginine but was reduced with 1-3 microg/ml sodium nitroprusside (41-54%). The increase in R(v) with L-NAME was reversed with 1 mM of L-arginine. Increased fatigue occurred with infusion of L-ArgSA; active tension and intramuscular pressure decreased by 62 and 66%, whereas passive tension and baseline intramuscular pressure increased by 80 and 30%, respectively. These data indicate a possible role for NO in the control of R(v) and contractility within the canine gastrocnemius-plantaris muscle during repetitive tetanic contractions.  (+info)

p(1),p(4)-diadenosine 5'-tetraphosphate induces the uptake of arginine and citrulline by a pore on the plasma membrane of bovine aortic endothelial cells. (2/25)

We have previously demonstrated that p(1),p(4)-diadenosine 5'-tetraphosphate (Ap(4)A) induces the release of nitric oxide (NO) and modulates the uptake of extracellular L-arginine (L-Arg) and L-citrulline (L-Cit) by bovine aortic endothelial cells (BAEC) [Hilderman, R.H. and Christensen, E.F. (1998) FEBS Lett. 427, 320-324 and Hilderman, R.H., Casey, T.E. and Pojoga, L.H. (2000) Arch. Biochem. Biophys. 375, 124-130]. In this communication we report that extracellular Ap(4)A enhances the uptake of L-Arg and L-Cit through a pore on the plasma membrane of BAEC that is selective for these two amino acids. We also demonstrate that Ap(2)A, which induces NO release, enhances L-Arg uptake while Ap(5)A, a vasoconstrictor, does not enhance the uptake of L-Arg. The potential physiological significance of the uptake of these two amino acids in relation to NO synthesis is discussed.  (+info)

On the role of substrate and GTP in the regulation of argininosuccinase activity. (3/25)

As determined by equilibrium dialysis, bovine liver argininosuccinase of molecular weight 202,000 binds 4 mol of argininosuccinate or arginine/mol of enzyme. Negative homotropic interactions occur in the binding of both ligands at 0.15 ionic strength in the presence of phosphate. Argininosuccinate binds to two sites (Kdiss 1.6 times 10(-5) M) and four sites (Kdiss 2.9 times 10(-4) M) at low and high substrate concentration. Similarly, arginine binds to two sites (Kdiss 4.9 times 10(-4) M), and four sites (Kdiss 1.6 times 10(-3) M). At 0.05 ionic strength in Tris-HCl buffer, the four enzyme sites bind argininosuccinate independently and arginine binding remains negatively cooperative. Kinetic analysis gave double reciprocal plots that showed negative cooperatively also. The changes in Km were analogous to changes in Kdiss, thus indicating that the substrate binding sites correspond to catalytic sites. Since the catalytically active enzyme is a tetramer composed of four identical or closely similar subunits (Lusty, C.J., and Ratner, S. (1972) J. Biol. Chem. 247, 7010-7022), the present results show that each subunit contains one catalytic site. Ionic strength, phosphate ions, and GTP have each been found to influence negative cooperatively through a change in the affinity for argininosuccinate. The significance of the negative homotropic interactions and of the specific stimulation of activity by GTP is discussed with respect to different conformational forms of the enzyme and the in vivo regulation of argininosuccinase activity.  (+info)

A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. (4/25)

Argininosuccinate lyase (ASL) deficiency (McKusick 207900) is a rare autosomal recessive disorder affecting the urea cycle. The cardinal symptom in the neonatal form is progressive hyperammonemia, which is often life-threatening. However, clinical symptoms in the late onset form are quite heterogeneous. As well as measurement of ASL activity, analysis of the ASL gene is necessary to clarify the genetic basis of various phenotypes. We report a patient with late onset argininosuccinate lyase deficiency (ASLD) who had hepatomegaly and mildly increased level of ammonia. By mutation analysis of the mRNA and genomic DNA from the patient's leukocytes, we identified a novel missense mutation 1395G>C in the homozygous state, which results in the exchange of a stop codon to tyrosine at amino acid position 465 (X465Y). This unique mutation causes an elongation of fifty amino acids in the C-terminal region of the ASL protein, and is likely related to a milder phenotype compared with previously reported mutations. In addition, this is the first report on mutation analysis in a Japanese ASLD patient.  (+info)

Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. (5/25)

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.  (+info)

Induction of nitric oxide synthase-2 proceeds with the concomitant downregulation of the endogenous caveolin levels. (6/25)

Several cell types express inducible nitric oxide synthase (NOS2) in response to exogenous insults such as bacterial lipopolysaccharide (LPS) or proinflammatory cytokines. For instance, muscular cells treated with LPS and interferon gamma (IFN-gamma) respond by increasing the mRNA and protein levels of NOS2, and synthesize large amounts of nitric oxide. We show here that transcriptional induction of NOS2 in muscular cells proceeds with a concomitant decrease in the levels of caveolin-1, -2 and -3. Addition of *NO-releasing compounds to C2C12 muscle cells reveals that this downregulation of the caveolin (cav) levels is due to the presence of *NO itself in the case of caveolin-3 and to the action of the LPS/IFN-gamma in the case of cav-1 and cav-2. Likewise, muscle cells obtained from NOS2(-/-) knockout mice challenged with LPS/IFN-gamma could downregulate their levels of cav-1 but not of cav-3, unlike wild-type animals, in which both cav-1 and cav-3 levels diminished in the presence of the proinflammatory insult. Laser confocal immunofluorescence analysis proves that *NO exerts autocrine and paracrine actions, hence diminishing the cav-3 levels. When the induced NOS2 was purified using an affinity resin or immunoprecipitated from muscular tissues, it appears strongly bound not only to calmodulin but also to cav-1, and marginally to cav-2 and cav-3. When the cav levels where reduced using antisense oligonucleotides, an increase in the NOS2-derived.NO levels could be measured, demonstrating the inhibitory role of the three cav isoforms. Our results show that cells expressing NOS2 diminish their cav levels when the synthesis of *NO is required.  (+info)

Structural studies of duck delta2 crystallin mutants provide insight into the role of Thr161 and the 280s loop in catalysis. (7/25)

Delta crystallin, a taxon-specific crystallin present in avian eye lenses, is homologous to the urea cycle enzyme ASL (argininosuccinate lyase). Although there are two delta crystallin isoforms in duck lenses, ddeltac1 (duck delta1 crystallin) and ddeltac2 (duck delta2 crystallin), only ddeltac2 is catalytically active. Previous structural studies have suggested that residues Ser283 and His162 in the multi-subunit active site of ddeltac2/ASL are the putative catalytic acid/base, while the highly conserved, positively charged Lys289 is thought to help stabilize the carbanion intermediate. The strict conservation of a small hydroxy-containing residue (Thr or Ser) at position 161 adjacent to the putative catalytic base, as well as its proximity to the substrate in the S283A ddeltac2 enzyme-substrate complex, prompted us to investigate further the role this residue. Structures of the active T161S and inactive T161D ddeltac2 mutants, as well as T161D complexed with argininosuccinate, have been determined to 2.0 A resolution. The structures suggest that a hydroxy group is required at position 161 to help correctly position the side chain of Lys289 and the fumarate moiety of the substrate. Threonine is probably favoured over serine, because the interaction of its methyl group with Leu206 would restrict its conformational flexibility. Residues larger than Thr or Ser interfere with substrate binding, supporting previous suggestions that correct positioning of the substrate's fumarate moiety is essential for catalysis to occur. The presence of the 280s loop (i.e. a loop formed by residues 270-290) in the 'open' conformation suggests that loop closure, thought to be essential for sequestration of the substrate, may be triggered by the formation of the carbanion or aci-carboxylate intermediates, whose charge distribution more closely mimics that of the sulphate ion found in the active-site region of the inactive ddeltac1. The 280s loop in ddeltac1 is in the closed conformation.  (+info)

Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (8/25)

An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease. The variation of AL activity in the tissues of this patient demonstrates that more than one gene locus either codes for the structure of this enzyme or regulates its biosynthesis in different organs.  (+info)

Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, geneticists, dieticians, and physicians who are familiar with metabolic disorders may need to work together to ensure a comprehensive approach to treatment. Occupational, speech language, and physical therapists may be needed to treat children with developmental disabilities. Genetic counseling is recommended for affected individuals and their families.. The treatment of argininosuccinic aciduria is aimed at preventing excessive ammonia from being formed or from removing excessive ammonia during a hyperammonemic episode. Long-term therapy combines dietary restrictions and the stimulation of alternative methods of converting and excreting nitrogen from the body (alternative pathways therapy).. Dietary restrictions in individuals with argininosuccinic aciduria are aimed at limiting the amount of protein intake to avoid the development of excess ammonia. However, enough protein must be taken in by ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
Figure 5 An approach to diagnosis of hyperammonemia in older children OA: organic acidurias, FAO: fatty acid oxidation defects, PC: pyruvate carboxylase deficiency, PDH: pyruvate dehydrogenase deficiency, ASA: argininosuccinic acid, AS: argininosuccinic aciduria, NAGS: N-acetylglutamate synthetase deficiency, CPS I: carbamoyl phosphate synthetase I deficiency, OTC: ornithine transcarbamoylase deficiency, HHH: hyperornithinemia hyperammonemia homocitrullinuria syndrome, LPI: lysinuric protein intolerance. (Click image to enlarge) ...
Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. Pubmed: 19212411 ...
Kleijer WJ et al. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.. [^] ...
Clinically affected; elevated orotate after allopurinol challenge with absence of argininosuccinic acid (elevated orotic acid = 759); past hyperammonemic events; on citrulline arginine supplement, sodium benzoate and sodium phenylbutyrate; protein restriction; neurologic evaluation was normal at age 1 year; donor subject is heterozygous for a C>T transition at nucleotide 67 in exon 1 of the OTC gene (67C>T) resulting in a stop at codon 23 [Arg23Ter (R23X)] ...
Ive only got through the first level in my lunch and was surprised I hadnt 100% it either. I got 95% or something. Is it that I have to complete it once in co-op to get 100 ...
Argininosuccinate lyase deficiency (ASLD; also known as argininosuccinic aciduria) is the second most common urea cycle disorder (UCD) and accounts for 15-20% of all disorders of ureagenesis. Individuals with ASLD can have unique clinical and physiologic characteristics as compared to other UCDs. Previous work from the members of the UCDC have shown that in spite of having fewer episodes of hyperammonemia as compared to those with proximal blockade of the urea cycle, individuals with ASLD can develop intellectual and learning disabilities. Neurocognitive deficits have been observed even in individuals without any documented hyperammonemia. Furthermore, hepatic abnormalities including hepatomegaly, hepatic injury, fibrosis and even frank cirrhosis, and vascular issues like hypertension are well known in the disorder. Previous work from the members of the UCDC has demonstrated a tissue- and molecular-specific role for ASL in the generation of NO. ASL is not only required for the synthesis of ...
So now there are 21 proteogenic amino acids…right?. Actually, there are 22 of them discovered till now. The last one is named Pyrrolysine, but it makes proteins only in prokaryotes (methanogenic archaea and bacteria).. So is there any other amino acids that are not "PROTEOGENIC"?. The proteogenic pool of amino acid is only a small part of the whole amino acid pool. There are many times more amino acids that dont produce proteins. Usually, the amino acids that dont have any associated genetic code wont produce proteins (they cant take part in translation), and so are non-proteogenic.. This is quite logical. Any organic molecule having at least one of each amine and carboxyl group can be called an amino acid and we have only limited number of genetic codes.. Examples of non-proteogenic amino acids are - ornithine, citrulline etc. in hepatic metabolism. The argininosuccinic acid in the urea cycle, S-adenosylmethionine, azaserine in streptomycin, synthetically produced (at least commercially) ...
Newborn Screening, Newborn, Newborn screening, Newborn screens, Expanded screening, Expanded newborn screening, Blood spot, Blood spot screening, Blood test, Tests for newborns, Genetic, Genetics, Genetic diseases, Genetic disorders, Genetic conditions, Genetic counseling, Genetic testing, Genetic screening, Birth defects, Diseases, Hereditary diseases, Inherited diseases, Cystic Fibrosis, CF, Hemophilia, Galactosemia, MSUD, Maple syrup urine disease, Hypothyroidism, PKU, Phenylketonuria, PKU formula, Formula, Metabolic formula, Metabolic, Metabolic conditions, Congenital Adrenal Hyperplasia, CAH, Sickle cell, Sickle cell anemia, Sickle cell disease, Sickle cell trait, Amino acid disorders, Argininosuccinic aciduria, Citrullinemia, Homocystinuria (cystathione synthase deficiency), Hypermethioninemia, Tyrosinemia, type II (TYRII), Fatty acid oxidation disorders, Carnitine/acylcarnitine translocase defect, Carnitine palmitoyl transferase deficiency (SCAD), Long-chain hydroxy acyl-CoA dehydrogenase
PROTOCOL OUTLINE: This protocol describes several clinical studies of pharmacologic and dietary management in patients with urea cycle disorders.. Patients with carbamyl phosphate synthetase and ornithine transcarbamylase deficiency are treated with a low-protein diet, essential amino acids (for neonatal onset disease), caloric supplementation, oral sodium phenylbutyrate (now approved as a prescription drug 11/97), and citrulline or arginine free base.. Patients with argininosuccinic acid synthetase deficiency are treated with a low-protein diet, caloric supplementation, oral sodium phenylbutyrate (now approved as a prescription drug 11/97), and arginine free base.. Patients with argininosuccinic aciduria (AA) are treated with a low-protein diet, caloric supplementation, and arginine free base. (Discontinued 11/97) Any patient who develops hyperammonemia is treated with intravenous sodium benzoate, sodium phenylbutyrate, and arginine hydrochloride; benzoate and phenylbutyrate are not given to ...
TY - JOUR. T1 - Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells. AU - Hung, Yu Hsuan. AU - Huang, Hau Lun. AU - Chen, Wei Ching. AU - Yen, Meng Chi. AU - Cho, Chien Yu. AU - Weng, Tzu Yang. AU - Wang, Chih Yang. AU - Chen, Yi Ling. AU - Chen, Li Tzong. AU - Lai, Ming Derg. PY - 2017/2. Y1 - 2017/2. N2 - Arginine is a critical amino acid in specific cancer types including hepatocellular carcinoma (HCC) and melanoma. Novel molecular mechanisms and therapeutic targets in arginine metabolism-mediated cancer formation await further identification. Our laboratory has previously demonstrated that arginine metabolic enzyme argininosuccinate lyase (ASL) promoted HCC formation in part via maintenance of cyclin A2 protein expression and arginine production for channeling to nitric oxide synthase. In this study, we investigated the mechanism by which ASL regulates cyclin A2 expression. We found that ASL interacted with cyclin A2 in HCC cells and the ...
TY - JOUR. T1 - Requirement of argininosuccinate lyase for systemic nitric oxide production. AU - Erez, Ayelet. AU - Nagamani, Sandesh C.S.. AU - Shchelochkov, Oleg A.. AU - Premkumar, Muralidhar H.. AU - Campeau, Philippe M.. AU - Chen, Yuqing. AU - Garg, Harsha K.. AU - Li, Li. AU - Mian, Asad. AU - Bertin, Terry K.. AU - Black, Jennifer O.. AU - Zeng, Heng. AU - Tang, Yaoping. AU - Reddy, Anilkumar K.. AU - Summar, Marshall. AU - OBrien, William E.. AU - Harrison, David G.. AU - Mitch, William E.. AU - Marini, Juan C.. AU - Aschner, Judy L.. AU - Bryan, Nathan S.. AU - Lee, Brendan. PY - 2011/12/1. Y1 - 2011/12/1. N2 - Nitric oxide (NO) is crucial in diverse physiological and pathological processes. We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency. Loss of Asl in both humans and mice leads to reduced NO synthesis, owing to both decreased endogenous arginine synthesis and an ...
Although accumulating evidence highlights the importance of p53-mediated metabolism in tumor suppression (2, 47), the mechanisms by which p53 drives dynamic nutrient status in harmony with canonical p53 functions remain poorly understood. Here, we show that p53 activates the penultimate step of de novo arginine synthesis pathway through the direct induction of the rate-limiting enzyme ASS1. Furthermore, we demonstrate that ASS1 deficiency induced anomalous Akt phosphorylation, resulting in rendering cells more susceptible to genotoxic stress.. Although we have demonstrated that p53 drives the de novo arginine synthesis pathway via ASS1 induction under genotoxic conditions, argininosuccinate lyase (ASL), which directly produces arginine from argininosuccinate, was not induced by p53 in HCT116 cells. These results suggest that ASS1 is the sole node connecting p53 to the de novo arginine synthesis pathway. Because ASS1 is a rate-limiting enzyme of the de novo arginine synthesis pathway, ASS1 ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
The SCOP classification for the Arginyl-tRNA synthetase (ArgRS), N-terminal additional domain superfamily including the families contained in it. Additional information provided includes InterPro annotation (if available), Functional annotation, and SUPERFAMILY links to genome assignments, alignments, domain combinations, taxonomic visualisation and hidden Markov model information.
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ID ARLY_METST Reviewed; 465 AA. AC Q2NGN7; DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot. DT 07-FEB-2006, sequence version 1. DT 25-OCT-2017, entry version 79. DE RecName: Full=Argininosuccinate lyase {ECO:0000255,HAMAP-Rule:MF_00006}; DE Short=ASAL {ECO:0000255,HAMAP-Rule:MF_00006}; DE EC=4.3.2.1 {ECO:0000255,HAMAP-Rule:MF_00006}; DE AltName: Full=Arginosuccinase {ECO:0000255,HAMAP-Rule:MF_00006}; GN Name=argH {ECO:0000255,HAMAP-Rule:MF_00006}; GN OrderedLocusNames=Msp_0618; OS Methanosphaera stadtmanae (strain ATCC 43021 / DSM 3091 / JCM 11832 / OS MCB-3). OC Archaea; Euryarchaeota; Methanobacteria; Methanobacteriales; OC Methanobacteriaceae; Methanosphaera. OX NCBI_TaxID=339860; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC STRAIN=ATCC 43021 / DSM 3091 / JCM 11832 / MCB-3; RX PubMed=16385054; DOI=10.1128/JB.188.2.642-658.2006; RA Fricke W.F., Seedorf H., Henne A., Kruer M., Liesegang H., RA Hedderich R., Gottschalk G., Thauer R.K.; RT "The genome sequence of ...
Learn more about [email protected] Aciduria, Type I from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.
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GeneReviews/NCBI/NIH/UW entry on Argininosuccinate Synthetase Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase ... Most of these mutations substitute one amino acid for another in ASS. These mutations likely affect the structure of the enzyme ...
Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic Human ASS1 genome location and ASS1 gene details ... Bock HG, Su TS, O'Brien WE, Beaudet AL (1983). "Sequence for human argininosuccinate synthetase cDNA". Nucleic Acids Res. 11 ( ...
Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic GeneReviews/NIH/UW entry on Citrin deficiency and ...
L-Canavaninosuccinic acid is cleaved to form L-canavanine by argininosuccinic acid synthetase. By these sequential reactions, ... the latter forms L-canavaninosuccinic acid in a reaction mediated by argininosuccinic acid synthetase. ... L-Canaline (IUPAC name 2-amino-4-(aminooxy)butyric acid)) is a non-proteinogenic amino acid. The compound is found in legumes ... a non-protein amino acid of great importance in the formation of a host of essential amino acids. In this way, the third ...
Enzymatic Cleavage of Argininosuccinic Acid to Arginine and Fumaric Acid" (Ratner, S., Anslow, W. P., Jr., and Petrack, B. ( ... Following her work in 1942 with David E. Green on amino- and hydroxy acid oxidases, and on a peptide form of p-aminobenzoic ... she published a study of the acid-base metabolism of a normal child on diets that increase in fat content. Together, they ... acid, she became interested in new aspects of nitrogen metabolism. In 1946, Ratner was hired as an assistant professor of ...
... diaminopimelic acid MeSH D02.241.081.337.820 --- succinic acids MeSH D02.241.081.337.820.150 --- argininosuccinic acid MeSH ... edetic acid MeSH D02.241.081.038.455 --- egtazic acid MeSH D02.241.081.038.581 --- iodoacetic acid MeSH D02.241.081.038.581.400 ... muramic acids MeSH D02.241.081.844.562 --- neuraminic acids MeSH D02.241.081.844.562.668 --- sialic acids MeSH D02.241.081.844. ... quinic acid MeSH D02.241.511.852 --- shikimic acid MeSH D02.241.511.902 --- sugar acids MeSH D02.241.511.902.107 --- ascorbic ...
Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia ... Amino acid catabolism results in waste ammonia. All animals need a way to excrete this product. Most aquatic organisms, or ... 1](p.734) The urea cycle and the citric acid cycle are independent cycles but are linked. One of the nitrogens in the urea ... The fumarate that is produced in step three is also an intermediate in the citric acid cycle and is returned to that cycle. ...
... argininosuccinic acid lyase deficiency, ornithine transcarbamylase deficiency, arginase deficiency, and N-Acetylglutamate ... The main treatments for CTLN1 include a low-protein, high-calorie diet with amino acid supplements, particularly arginine. The ...
... or argininosuccinic acid synthetase. Uncontrolled, this causes mental retardation and early death. Sodium phenylbutyrate ... Sodium phenylbutyrate is a sodium salt of an aromatic fatty acid, made up of an aromatic ring and butyric acid. The chemical ... Sodium phenylbutyrate is a salt of an aromatic fatty acid, 4-phenylbutyrate (4-PBA) or 4-phenylbutyric acid. The compound is ... Brusilow, Saul; Tinker J; Batshaw ML (8 February 1980). "Amino acid acylation: a mechanism of nitrogen excretion in inborn ...
... also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also ... Elevated levels of argininosuccinic acid (5-110 µmol/L) in the plasma or urine are diagnostic. Molecular genetic testing ... Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ...
It is a basic amino acid. Some cells synthesize argininosuccinic acid from citrulline and aspartic acid and use it as a ... Argininosuccinic acid is a non-proteinogenic amino acid that is an important intermediate in the urea cycle. ... Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. Argininosuccinate ...
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria ... In 1946-47 he studied in Rochester, New York on a Rockefeller scholarship, initially in the field of amino-acid metabolism. He ... camp at Belsen as part of the Medical Research Council study group to study the treatment of starvation by amino-acid mixtures ...
1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in ... 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 ... Inborn errors of amino acid metabolism Tyrosinemia II Argininemia Benign hyperphenylalaninemia Defects of biopterin cofactor ...
FREM1 Bile acid malabsorption, primary; 613291; SLC10A2 Bile acid synthesis defect, congenital, 2; 235555; AKR1D1 Bile acid ... ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 ... SBDS Sialic acid storage disorder, infantile; 269920; SLC17A5 Sialidosis, type I; 256550; NEU1 Sialidosis, type II; 256550; ... SLC7A7 Lysosomal acid phosphatase deficiency; 200950; ACP2 Lysyl hydroxylase 3 deficiency; 612394; PLOD3 Machado-Joseph disease ...
X-linked Achromatopsia Acid maltase deficiency Acidemia, isovaleric Acidemia, propionic Acitretine antenatal infection Ackerman ... syndrome Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic ... Arachindonic acid, absence of Arachnodactyly Arachnodactyly ataxia cataract aminoaciduria mental retardation Arachnodactyly ... Arnold-Stickler-Bourne syndrome Arnold-Chiari malformation Aromatase deficiency Aromatase excess syndrome Aromatic amino acid ...
Disorder of aromatic amino-acid metabolism, unspecified (E71) Disorders of branched-chain amino-acid metabolism and fatty-acid ... Disorders of urea cycle metabolism Argininaemia Argininosuccinic aciduria Citrullinaemia Hyperammonaemia (E72.3) Disorders of ... Other disorders of amino-acid metabolism (E72.0) Disorders of amino-acid transport Cystinuria Cystinosis Hartnup disease Lowe's ... Disorder of branched-chain amino-acid metabolism, unspecified (E71.3) Disorders of fatty-acid metabolism Adrenoleukodystrophy ( ...
With the advent of tandem mass spectrometry as a screening tool, several fatty acid oxidation disorders were targeted for ... Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ... The United States screens for all known fatty acid oxidation disorders, either as primary or secondary targets, while other ... Population based studies in Germany, the United States and Australia put the combined incidence of fatty acid oxidation ...
... pyrrolidonecarboxylic acid MeSH D12.125.068.050 --- arginine MeSH D12.125.068.050.075 --- argininosuccinic acid MeSH D12.125. ... aspartic acid MeSH D12.125.067.500.150 --- d-aspartic acid MeSH D12.125.067.500.275 --- isoaspartic acid MeSH D12.125.067.500. ... 2-aminoadipic acid MeSH D12.125.119.170 --- aspartic acid MeSH D12.125.119.170.150 --- d-aspartic acid MeSH D12.125.119.170.275 ... argininosuccinic acid MeSH D12.125.095.104.095 --- benzoylarginine-2-naphthylamide MeSH D12.125.095.104.100 --- benzoylarginine ...
... producing the amino acid arginine and dicarboxylic acid fumarate. Located in liver cytosol, ASL is the fourth enzyme of the ... which can explain the developmental delay in argininosuccinic aciduria patients. One mutation in patients with argininosuccinic ... L-arginine continues through the urea cycle to form urea and ornithine, while fumarate can enter the citric acid cycle. ASL, δ- ... Although there is no consensus of the catalytic acid that donates the proton to the imine functional group of the arginine ...
This also results in decreased levels of the metabolite urocanic acid in blood, urine, and skin cells.[1] In Japan, neonatal ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... Histidase is needed for the metabolism of the amino acid histidine.[1] Although originally thought to be linked to multiple ... observing histidine as well as imidazolepyruvic acid metabolites in the urine. However, neonatal urine testing has been ...
People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... Symptoms can be reduced through avoidance of leucine, an amino acid. Leucine is a component of most protein-rich foods; ...
Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma- ... Taurine is a non-protein sulfur amino acid that is found in high concentrations in human milk. It has been shown to have ...
"Dietary Reference Intakes for Energy, Carbohydrates, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids. Washington ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... 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 ...
Inborn error of amino acid metabolism (E70-E72, 270). K→acetyl-CoA. ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
Amino acid: Ornithine transcarbamylase deficiency. *Oculocerebrorenal syndrome. *Dyslipidemia: Adrenoleukodystrophy. * ... Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
... amino acids) of certain proteins. Failure to break down amino acids results in the excessive accumulation of acids in the blood ... Infants with argininosuccinic aciduria are placed a low protein, high calorie diet supplemented by essential amino acids. A ... A diagnosis can be confirmed by identifying elevated levels of argininosuccinic acid in blood or urine samples. A diagnosis can ... Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of ...
... On-line free medical diagnosis assistant. Ranked list of possible ... Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and ... Detailed information through a personalized searchRanked list of diseases related to "Argininosuccinic Aciduria"Drugs, active ... principles and "Argininosuccinic Aciduria"Medicinal plantsQuestions and answers from other usersNewsVideos ...
It is a basic amino acid. Some cells synthesize argininosuccinic acid from citrulline and aspartic acid and use it as a ... Argininosuccinic acid is a non-proteinogenic amino acid that is an important intermediate in the urea cycle. ... Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. Argininosuccinate ...
Nω-L-arginino)succinic acid (CHEBI:15682) is a non-proteinogenic L-α-amino acid (CHEBI:83822) (Nω-L-arginino)succinic acid ( ... Nω-L-arginino)succinic acid (CHEBI:15682) is a L-arginine derivative (CHEBI:83965) (Nω-L-arginino)succinic acid (CHEBI:15682) ... Nω-L-arginino)succinic acid (CHEBI:15682) has role Escherichia coli metabolite (CHEBI:76971) (Nω-L-arginino)succinic acid ( ... CHEBI:15682 - (Nω-L-arginino)succinic acid. Main. ChEBI Ontology. Automatic Xrefs. Reactions. Pathways. Models. ...
Formation of guanidinosuccinic acid, a stable nitric oxide mimic, from argininosuccinic acid and nitric oxide-derived free ... Guanidinosuccinic acid (GSA) is noted for its nitric oxide (NO) mimicking actions such as vasodilatation and activation of the ...
Argininosuccinic Acid Lyase Deficiency (ASA)Download version for offline viewing or printing. [446.21kB] ... Babies with ASA are missing an enzyme called "argininosuccinic acid lyase" that removes ammonia from the blood, which causes ...
ARGININOSUCCINIC ACID BARIUM SALT:2H2O (ARGININE-13C6, 99%; 15N4, 99%) 90%+ CP. We are specialized in manufacturing Stabel ... Home > Products > Stable Isotope Labeled Analytical Standard > Amino Acids > ARGININOSUCCINIC ACID BARIUM SALT:2H2O (ARGININE- ... ARGININOSUCCINIC ACID BARIUM SALT:2H2O (ARGININE-13C6, 99%; 15N4, 99%) 90%+ CP. ... ARGININOSUCCINIC ACID BARIUM SALT:2H2O (ARGININE-13C6, 99%; 15N4, 99%) 90%+ CP. ...
Argininosuccinic acid + Hydrogen ion + Pyrophosphate. Argininosuccinic acid ,, L-Arginine + Fumaric acid. Argininosuccinic acid ... L-Aspartic acid , Pyrophosphate + Adenosine monophosphate + Argininosuccinic acid. Argininosuccinic acid , Fumaric acid + L- ... Argininosuccinic acid. Description:. Arginosuccinic acid is a basic amino acid. Some cells synthesize it from citrulline, ... Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. ...
Strong acid explanation free. What is Strong acid? Meaning of Strong acid medical term. What does Strong acid mean? ... Looking for online definition of Strong acid in the Medical Dictionary? ... argininosuccinic acid. C10H18N4O6, a compound intermediate in the synthesis of arginine, formed from citrulline and aspartic ... Essential fatty acid, Excitatory amino acid, Fatty acid, acid, Free-form amino acid, Fibric acid, Folic acid, Formic acid, ...
argininosuccinic acid. C10H18N4O6, a compound intermediate in the synthesis of arginine, formed from citrulline and aspartic ... n-3 fatty acid. Omega-3 fatty acid.. n-6 fatty acid. Omega-6 fatty acid.. nicotinic acid. Niacin.. nitric acid. HNO3, a ... amino acid. See: amino acid. aminoacetic acid. Glycine.. aminobenzoic acid. Para-aminobenzoic acid.. aminocaproic acid. C6H13NO ... Glutamic acid.. aminosalicylic acid. Para-aminosalicylic acid.. aminosuccinic acid. Aspartic acid.. arachidonic acid. C20H32O2 ...
L-argininosuccinic acid ligand page. Quantitative data and detailed annnotation of the targets of licensed and experimental ... 2S)-2-[[N-[(4S)-4-amino-5-hydroxy-5-oxopentyl]carbamimidoyl]amino]butanedioic acid. ...
Argininosuccinic Aciduria Amino Acid Metabolism, Inborn Errors Urea Cycle Disorders Drug: Sodium Phenylbutyrate Drug: Arginine ... People with ASA are at risk for serious liver damage, which may be due to the elevated levels of argininosuccinic acid. Sodium ... Argininosuccinic Acid Levels [ Time Frame: Measured after each 1-week treatment period ]. *Arginine Levels [ Time Frame: ... Amino Acid Metabolism, Inborn Errors. Urea Cycle Disorders, Inborn. Metabolism, Inborn Errors. Argininosuccinic Aciduria. Brain ...
ASA, indicates argininosuccinic acid; CPS, carbamyl phosphate synthetase.. Infants who develop severe hyperammonemia after 24 ... Although not available in many hospital laboratories, amino acid and organic acid analysis can be obtained in any part of the ... Within 48 to 72 hours, the results of amino acid and organic acid analysis should be available, allowing diagnostic ... Essential amino acids or total protein can be provided orally or intravenously at an initial dose of 0.5 g protein/kg/24 hours ...
Incorporation of radiolabeled citrulline into argininosuccinic acid is measured in cultured fibroblasts (see also Prenatal ... Urinary organic acids analysis. Normal, although orotic acid may be detected as part of urinary organic acid analysis by gas ... The preferred terms for argininosuccinic acid synthetase deficiency are "citrullinemia type I" and "classic citrullinemia," ... Synonyms: Argininosuccinate Synthetase Deficiency, Argininosuccinic Acid Synthetase Deficiency, ASS Deficiency, Classic ...
acid answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, and ... argininosuccinic acid. C10H18N4O6, a compound intermediate in the synthesis of arginine, formed from citrulline and aspartic ... organic acid. An acid containing the carboxyl radical, -COOH. Organic acids include acetic acid, formic acid, lactic acid, and ... Polyunsaturated fatty acids include linoleic acid and alpha-linoleic acid.. SEE: fatty acid; SEE: saturated fatty acid ...
Citrulline and aspartate formed from amino acids via step [26b] react to form argininosuccinate [32]; argininosuccinic acid ... Since the effect of these reactions is to produce n amino acids and n keto acids from n different amino acids and n different ... If fluoroacetic acid or fluorocitric acid is ingested by animals, for example, citric acid accumulates in the liver. This ... Fate of fatty acids. Formation of fatty acyl coenzyme A molecules. As with sugars, the release of energy from fatty acids ...
... argininosuccinic acid synthetase catalyzes the reaction. Argininosuccinate splits into fumarate and arginine ... Citrulline and aspartate formed from amino acids via step [26b] react to form argininosuccinate [32]; ... Citrulline and aspartate formed from amino acids via step [26b] react to form argininosuccinate [32]; argininosuccinic acid ...
... argininosuccinic acid synthase (ASS); argininosuccinic acid lyase (ASL); arginase I (ARG); nitric oxide synthase (NOS). Pearl [ ... Fatty Acid Oxidation Disorders. Severe seizures can be a presenting sign of defects in fatty acid beta-oxidation, a biochemical ... Amino and Organic Acid Disorders. Amino acidopathies and organic acidemias, resulting from disorders in amino or fatty acid ... In some cases, treatment with high doses of folinic acid (as opposed to folic acid, which has poor blood-brain barrier entry) ...
Argininosuccinic acid. 0.0−85.4. 0.0−74.8. 0.0−74.7. 0.0−173.1. 0.0−51.2 ...
HomeAbnormal Newborn ScreeningFor Healthcare ProvidersAmino Acid DisordersArgininosuccinic acidemia (ASA) ... Urine organic acids. 4. Referral indicated: If the infant has any signs or symptoms, or if testing confirms the diagnosis, a ... Argininosuccinic acidemia (ASA). Borderline elevation of Citrulline. 1. What does this mean? This infant may have an inborn ...
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen Rebecca D. Ganetzky, Emma Bedoukian, Matthew A. Deardorff, Can ...
argininosuccinic acid lyase deficiency (ASAL deficiency). *citrullinemia, type I / argininosuccinic acid synthetase deficiency ... Organic Acid Disorders. *2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. *2-methylbutyryl-CoA dehydrogenase deficiency ... Fatty Acid Oxidation Disorders. *carnitine transporter deficiency. *carnitine-acylcarnitine translocase deficiency (CAT ...
Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria). *Carbamyl-Phosphate Synthase I Deficiency. *Drug: ...
GeneReviews/NCBI/NIH/UW entry on Argininosuccinate Synthetase Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase ... Most of these mutations substitute one amino acid for another in ASS. These mutations likely affect the structure of the enzyme ...
L-Argininosuccinic acid. *L-Arginosuccinic acid. *2-(Nomega-L-arginino)succinic acid ... 484 amino acids. Molecular mass:. 54889 Da. Quaternary structure:. *Homotetramer. Residues from neighboring subunits contribute ... 2S)-2-[5-amino-1-(5-phospho-beta-D-Ribosyl)imidazole-4-carboxamido]succinic acid ...
  • Fumaric acid is a dicarboxylic acid. (hmdb.ca)
  • Fumaric acid has recently been identified as an oncometabolite or an endogenous, cancer causing metabolite. (hmdb.ca)
  • Fumaric acid is a weakly acidic compound (based on its pKa). (ymdb.ca)
  • Fumaric acid exists in all living species, ranging from bacteria to humans. (ymdb.ca)
  • Within yeast, fumaric acid participates in a number of enzymatic reactions. (ymdb.ca)
  • In yeast, fumaric acid is involved in the metabolic pathway called the oxidative phosphorylation pathway. (ymdb.ca)
  • Fumaric acid is a potentially toxic compound. (ymdb.ca)
  • It is a building block or proteins, participates in the citric acid and urea cycles, and is a neurotransmitter. (tabers.com)
  • If fluoroacetic acid or fluorocitric acid is ingested by animals, for example, citric acid accumulates in the liver. (britannica.com)
  • The Neogram MSMS kit is intended for the quantitative determination of up to 10 clinically significant amino acids and 13 clinically significant acylcarnitines, detecting up to 30 different metabolic diseases from a single dried blood spot sample using the MS/MS tandem mass spectrometer. (perkinelmer.com)
  • Amino acid analysis is a technique based on ion exchange liquid chromatography, used in a wide range of application areas to provide qualitative and quantitative compositional analysis. (dksh.com)
  • Since cancer cells are characterized by altered metabolic pathways, determination of low-molecular weight metabolites, such as free amino acids, in biological fluids can be a reduced invasive method associated to a high diagnostic potential [ 14 ]. (medsci.org)
  • Indeed, in the example, lactic acid is formed in response to abnormal circumstances and is not directly formed in the pathways of carbohydrate catabolism. (britannica.com)
  • Pyruvic acid or pyruvate is a key intermediate in the glycolytic and pyruvate dehydrogenase pathways, which are involved in biological energy production. (drugbank.ca)
  • The significance of this observation was first realized in the early 20th century when the phrase " inborn errors of metabolism " was used to describe hereditary conditions in which a variety of amino acids and other metabolites are excreted in the urine. (britannica.com)
  • Thus, during the stress of intense exercise, lactic acid appears in the blood , while glycogen, the form in which carbohydrate is stored in muscle, disappears. (britannica.com)
  • In carbohydrate science , Sugar Acids , as an acyclic acid , are acidic sugars. (wellnessadvocate.com)