• Arginosuccinic acid is a basic amino acid. (ecmdb.ca)
  • These are compounds containing an aspartic acid or a derivative thereof resulting from reaction of aspartic acid at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom. (ecmdb.ca)
  • NeoMass AAAC is used with Tandem Mass Spectrometry to detect concentrations of amino acid, free carnitine, acylcarnitines, succinylacetone and argininosuccinic acid. (medpick.in)
  • Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe hyperammonemia . (lookfordiagnosis.com)
  • Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or citrulline-NO cycle. (ecmdb.ca)
  • citrullinemia, type I / argininosuccinic acid synthetase deficiency (ASAS def. (stanford.edu)
  • The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe hyperammonemia. (renalandurologynews.com)
  • Citrulline level is normal in arginine deficiency and is markedly elevated in argininosuccinic lyase deficiency, usually 100 times the upper limit of the normal range. (renalandurologynews.com)
  • Argininosuccinic acid in plasma and urine permits the specific diagnosis of Argininosuccinic lyase deficiency. (renalandurologynews.com)
  • Fumaric acid is found to be associated with fumarase deficiency, which is an inborn error of metabolism. (hmdb.ca)
  • 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. (clinicaltrials.gov)
  • 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. (clinicaltrials.gov)
  • Summary: Citrullinemia is a rare autosomal recessive inborn error of the urea cycle due to a deficiency in argininosuccinic acid synthetase. (ajnr.org)
  • Initially described by Mc Murray et al in 1962 ( 1 ), citrullinemia is a rare autosomal recessive inborn error of the urea metabolism due to a deficiency in argininosuccinic acid synthetase (AAS) ( 2 ). (ajnr.org)
  • Urea cycle disorders are a collection of 8 enzymes involved in waste nitrogen excretion as urea including N-acetylglutamate synthase deficiency (NAGS), carbamoylphosphate synthetase (CPS1), ornithine transcarbamylase deficiency (OTC), citrin deficiency (including citrullinemia type 2, CIT2), argininosuccinic acidemia (ASA), and argninase deficiency (ARG). (clinicaladvisor.com)
  • Urea cycle disorders, such as CIT1 deficiency, can be diagnosed by quantitative plasma amino acid analysis. (clinicaladvisor.com)
  • Carglumic acid is used in the treatment of hyperammonemia seen in individuals with deficiency of N-acetyl glutamate synthase. (gminsights.com)
  • These disorders result in the accumulation or deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder. (testcatalog.org)
  • argininosuccinic acid synthetase catalyzes the reaction. (britannica.com)
  • Sodium phenylbutyrate is a histone deacetylase inhibitor that is FDA approved for the treatment of chronic management of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS). (wikidoc.org)
  • BUPHENYL is indicated as adjunctive therapy in the chronic management of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS). (wikidoc.org)
  • CIT1 is due to a defect in argninosuccinic acid synthetase (ASS), which converts citrulline and aspartate into argninosuccinic acid. (clinicaladvisor.com)
  • FDA-approved indication: Adjunctive therapy in the chronic managment of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetase. (nih.gov)
  • Some cells synthesize argininosuccinic acid from citrulline and aspartic acid and use it as a precursor for arginine in the urea cycle or citrulline-NO cycle. (wikipedia.org)
  • C 10 H 18 N 4 O 6 , a compound intermediate in the synthesis of arginine, formed from citrulline and aspartic acid. (thefreedictionary.com)
  • Argininosuccinic lyase is involved in the conversion of the citrulline to arginine in other tissues. (renalandurologynews.com)
  • The presented research provides a strong evidence that ethanolamine, arginine and branched-chain amino acids metabolic pathways can be a valuable source of markers for prostate cancer. (medsci.org)
  • The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. (genecards.org)
  • Compound 5 is fumaric acid generated in the reaction that converts ASA to arginine (6), which is mediated by ASA lyase. (medscape.com)
  • The amino acid serves as a precursor for synthesis of proteins, oligopeptides, purines, pyrimidines, nucleic acids and L-arginine. (drugbank.ca)
  • The stimulus for this oxidation, occurring optimally in the presence of the failed kidney, is the rising level of urea which, through enzyme inhibition, results in a decline in hepatic levels of the semi-essential amino acid, arginine. (hmdb.ca)
  • The enzyme argininosuccinic acid lyase is deficient, blocking conversion of argininosuccinate to fumarate and arginine. (medicalhomeportal.org)
  • Defects in the absorption of dibasic amino acids leads to lysinuric protein intolerance, and causes deficiencies of lysine, arginine, and ornithine. (psychiatryadvisor.com)
  • Elevated urine and decreased plasma ornithine, arginine, and lysine can be detected on amino acid analysis. (psychiatryadvisor.com)
  • In vertebrates, the basis for the phosphoric acid is creatine, whereas invertebrates have arginine instead. (dictionary.com)
  • The urea cycle is also responsible for endogenous production of the amino acids citrulline, ornithine, and arginine. (testcatalog.org)
  • The quantitative results of glutamine, ornithine, citrulline, arginine, and argininosuccinic acid with age-dependent reference values are reported without added interpretation. (testcatalog.org)
  • Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. (wikipedia.org)
  • Babies with ASA are missing an enzyme called "argininosuccinic acid lyase" that removes ammonia from the blood, which causes the accumulation of ammonia and other harmful substances in the blood. (newbornscreening.on.ca)
  • Argininosuccinic acid, also known as L-argininosuccinate or ASA, belongs to the class of organic compounds known as aspartic acid and derivatives. (ymdb.ca)
  • This compound belongs to the class of chemical entities known as aspartic acid and derivatives. (ecmdb.ca)
  • These are compounds containing an aspartic acid or a derivative thereof resulting from reaction of aspartic acid at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom. (ecmdb.ca)
  • Aspartic acid and derivatives are compounds containing an aspartic acid or a derivative thereof resulting from reaction of aspartic acid at the amino group or the carboxy group, or from the replacement of any hydrogen of glycine by a heteroatom. (ymdb.ca)
  • Aspartic acid. (thefreedictionary.com)
  • Buphenyl-TM may aid in lowering ammonia and argininosuccinic acid levels. (clinicaltrials.gov)
  • Furthermore, amino acids derived from the dietary proteins serve as energy source since while catabolized in our body, amino acids form organic acids that can replenish Krebs cycle and ammonia that eliminates through urea cycle [ 1 ]. (intechopen.com)
  • Patients should be monitored periodically with laboratory tests to verify adequacy of amino acid concentration maintaining normal ammonia levels. (medicalhomeportal.org)
  • Quantitative plasma ammonia and amino acid analysis, urine for orotic acid, genetic testing for the ASS (ASS1) or citrin (SLC25A13) gene as indicated. (medicalhomeportal.org)
  • 22626821 ). Hippuric acid is also found to be associated with phenylketonuria, propionic acidemia, and tyrosinemia I, which are inborn errors of metabolism. (hmdb.ca)
  • Biochemical workup revealed blood hyperosmolarity, hyperammonemia, and elevated citrulline levels, as well as an elevated orotic acid level in the urine. (ajnr.org)
  • New rapid analytical methods are necessary to provide high-throughput orotic acid analyses. (biomedsearch.com)
  • For proper evaluation of patients with a suspected urea cycle disorder, order Amino Acids Quantitative by LC-MS/MS, Plasma ( 2009389 ), Amino Acids Quantitative by LC-MS/MS, Urine ( 2009419 ), and Organic Acids, Urine ( 0098389 ) concurrently with orotic acid testing. (aruplab.com)
  • Urine organic acids may show a mild elevation of orotic acid, but more often the level of orotic acid is normal. (clinicaladvisor.com)
  • Urine organic acids will be unremarkable with no elevation of orotic acid. (oncologynurseadvisor.com)
  • Measurement of urinary orotic acid, enzyme activity (CPS I, OTC, or NAGS), and molecular genetic testing can help to distinguish the conditions and allows for diagnostic confirmation. (testcatalog.org)
  • The formation of propionyl CoA in human metabolism is derived from many sources, chiefly catabolism of a number of essential amino acids (isoleucine, valine, threonine, methionine). (medscape.com)
  • It is further noted that concentrations of GSA in both serum and urine decline sharply in animals and humans exposed to the essential amino acid, methionine. (hmdb.ca)
  • All of these compounds utilize, or derive from, the essential amino acids provided by the diet. (directlabs.com)
  • One of the non-essential amino acids commonly occurring in the L-form. (drugbank.ca)
  • Previously, neonatal-onset disease was almost universally fatal within the first year of life, even when treated with peritoneal dialysis and essential amino acids or their nitrogen-free analogs. (wikidoc.org)
  • 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)
  • This test should be ordered in conjunction with AAQP / Amino Acids, Quantitative, Plasma. (testcatalog.org)
  • The specimens for both tests (AAQP / Amino Acids, Quantitative, Plasma and AACSF / Amino Acids, Quantitative, Spinal Fluid) should be collected at the same time. (testcatalog.org)
  • Hippuric acid is an acyl glycine formed from the conjugation of benzoic acid with glycine. (hmdb.ca)
  • Hippuric acids are compounds containing hippuric acid, which consists of a of a benzoyl group linked to the N-terminal of a glycine. (hmdb.ca)
  • Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. (aappublications.org)
  • Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and fatty acid oxidation defects. (aappublications.org)
  • [ 44 ] Other categories of EM that also present after 24 hours of age with hyperammonemia include organic acidemias and fatty acid oxidation disorders. (medscape.com)
  • Also, fatty acid oxidation disorders tend to present with mild metabolic acidosis. (medscape.com)
  • The classical presentation of fatty acid oxidation disorders is nonketotic hypoglycemia or hypoketotic hypoglycemia. (medscape.com)
  • Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders (involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria) and large molecule disorders (including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies). (hindawi.com)
  • The range of inherited metabolic disorders has been organized by the category of molecules or the biochemical process involved: for example, small molecule disorders include dysfunction involving amino, organic, or fatty acids, neurotransmitters, the urea cycle, vitamers and cofactors, and disorders of the mitochondria. (hindawi.com)
  • Amino acidopathies and organic acidemias, resulting from disorders in amino or fatty acid catabolism, present with seizures and cognitive, behavioral, or motor disturbances resulting from the accumulation of toxic intermediaries, or possible structural damage [ 1 ]. (hindawi.com)
  • The finding of elevated methylmalonic acid can be caused by a number of distinct disorders including defects in the vitamin B12-related enzymes cobalamin A, B, C, or D and methylmalonyl CoA mutase (MUT). (hindawi.com)
  • Urea cycle disorders often have normal urinary organic acid levels. (renalandurologynews.com)
  • Urea acid cycle disorders are characterized by the triad of hyperammonemia, encephalopathy and respiratory alkalosis. (renalandurologynews.com)
  • One group of these disorders is amino acid metabolism disorders. (medlineplus.gov)
  • If you have one of these disorders, your body may have trouble breaking down certain amino acids. (medlineplus.gov)
  • The Amino Acids Analysis nutritional test helps to identify metabolic imbalances underlying many chronic disorders. (directlabs.com)
  • With the precise results and comprehensive commentary provided, nutritional deficiencies, metabolic impairments, and amino acid transport disorders can be accurately identified and corrected. (directlabs.com)
  • Determination of the adequacy of amino acids, proper balance between them, and conversion capability are of paramount importance in preventing illness and getting to the root of many chronic disorders. (directlabs.com)
  • Categorization of IEM can be simply made on the basis of the affected metabolic network: fatty acids oxidation disorders, protein/amino acids metabolism disorders, disorders of carbohydrate metabolism, lysosomal storage diseases, peroxisomal disorders, and mitochondrial diseases. (intechopen.com)
  • This chapter will overview amino acid metabolism-related inherited disorders and amino acid analysis for the diagnosis and routine monitoring of this category of IEMs. (intechopen.com)
  • Amino acids disorders (also called aminoacidopathies) are a group of inborn errors of metabolism diseases, caused by the inherited defects in pathways involved in amino acids metabolism. (intechopen.com)
  • All primary amino acids disorders ( Table 1 ) follow an autosomal recessive mode of inheritance which means that the mutation caused a metabolic block is present in the genetic material of both parents. (intechopen.com)
  • Therefore, amino acids disorders are biochemically characterized by abnormal levels of single or several amino acids and their downstream plasma and/or urine metabolites ( Tables 2 - 6 ). (intechopen.com)
  • Amino acid disorders are presented with variable and often nonspecific clinical symptoms. (intechopen.com)
  • Compositions comprising N-acetyl-aidosamines, N-acetylamino acids, and related N-acetyl compounds are useful to alleviate or improve various cosmetic conditions and dermatological disorders, including changes or damage to skin, nail and hair associated with intrinsic aging and/or extrinsic aging, as well as changes or damage caused by extrinsic factors. (freepatentsonline.com)
  • FDA-approved indication: Use as a nitrogen-binding adjunctive therapy for chronic management of adult and pediatric patients at least 2 months of age with urea cycle disorders (UCDs) that cannot be managed by dietary protein restriction and/or amino acid supplementation alone. (nih.gov)
  • Amino Acid Metabolism Disorders Treatment Market size is projected to experience significant growth from 2019 to 2025. (gminsights.com)
  • Growing prevalence of amino acid metabolism disorders such as phenylketonuria and maple syrup urine will stimulate the global amino acid metabolism disorders treatment business growth over the coming years. (gminsights.com)
  • Amino acid metabolism disorders are inherited metabolic disorders that mostly occurs in childhood. (gminsights.com)
  • The U.S. amino acid metabolism disorders treatment market will foresee significant growth due to numerous on-going clinical trials regarding amino acid metabolism disorder treatment and several acquisitions and mergers amongst the key players present in the country. (gminsights.com)
  • India amino acid metabolism disorders treatment market is expected to grow at a significant pace owing to the increase in nutritional management activities. (gminsights.com)
  • Some of the prominent market players involved in the global amino acid metabolism disorders treatment market are Pfizer, AMINO GmbH, Merck KGaA, GlaxoSmithKline PLC, Civentichem among others. (gminsights.com)
  • Amino acid disorders can manifest at any age, but most become evident in infancy or early childhood. (testcatalog.org)
  • If not diagnosed and treated promptly, amino acid disorders can result in mental retardation and death. (testcatalog.org)
  • It is formed by the oxidation of succinic acid by succinate dehydrogenase. (hmdb.ca)
  • This correctly suggests that fluorocitric acid administered as such, or formed from fluoroacetic acid via the tricarboxylic acid (TCA) cycle, inhibits an enzyme of citrate oxidation. (britannica.com)
  • The enzyme fumarase (fumarate hydratase) catalyzes the conversion of L-malic acid to fumaric acid. (biologists.org)
  • Argininosuccinic acid is a non-proteinogenic amino acid that is an important intermediate in the urea cycle. (wikipedia.org)
  • However, because ASA is the only urea cycle disorder that is characterized by both liver damage and elevated levels of argininosuccinic acid, researchers believe that the elevated acid levels cause the liver damage. (clinicaltrials.gov)
  • The hepatic urea cycle is the major route for waste nitrogen disposal, which is chiefly generated by protein and amino acid metabolism. (medscape.com)
  • Defects in transporters for intermediates of the urea cycle can also result in hyperammonemia, and characteristic plasma and urine amino acid profiles. (psychiatryadvisor.com)
  • They can be differentiated from urea cycle defects by the presence of the offending organic acid on urine organic acid analysis. (psychiatryadvisor.com)
  • Laboratory tests include measurement of plasma and urinary amino acids, urinary organic acids, electrolytes, lactate and pyruvate levels. (renalandurologynews.com)
  • Abnormal urinary organic acid levels suggest congenital lactic acidosis, organic acidemias and fatty acid oxidation defects. (renalandurologynews.com)
  • High levels of this organic acid can be found in tumors or biofluids surrounding tumors. (hmdb.ca)
  • These are organic compounds containing exactly two carboxylic acid groups. (hmdb.ca)
  • belongs to the class of organic compounds known as hippuric acids. (hmdb.ca)
  • 1. Rinaldo P, Hahn S, Matern D: Inborn errors of amino acid, organic acid, and fatty acid metabolism. (testcatalog.org)
  • In organic chemistry , Acyclic Acids (Ethanoic Acids) , as organic compounds are 2 carbon straight-chain saturated carboxylic acids , that have an open-chain molecular structures as opposed to ring-shaped structures. (wellnessadvocate.com)
  • 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)
  • 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)
  • Its metabolic origins show that it arose from the oxidation of argininosuccinic acid (ASA) by free radicals. (hmdb.ca)
  • Assessment of metabolic defects resulting in abnormal amino acid metabolism. (umich.edu)
  • It is a building block or proteins, participates in the citric acid and urea cycles, and is a neurotransmitter. (tabers.com)
  • By feeding amino acids labeled with isotopic nitrogen to rats, it was discovered that the isotope was incorporated into many of the amino acids found in proteins of the liver and the gut, even though the total protein content of these tissues did not change. (britannica.com)
  • Amino acids are "building blocks" that join together to form proteins. (medlineplus.gov)
  • Two known distributed proteins are the tricarboxylic acid (TCA) cycle enzymes aconitase and fumarase. (biologists.org)
  • Amino acids are the basic structural units that comprise proteins and are found throughout the body. (testcatalog.org)
  • the free amino acid increases insulin secretion and is converted to urea in the liver by arginase. (dictionary.com)
  • An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. (icd9data.com)
  • 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)
  • rather, they show only that compounds capable of yielding lactic acid are likely to be normal intermediates. (britannica.com)
  • Hippuric acid is a normal component of urine and is typically increased with increased consumption of phenolic compounds (tea, wine, fruit juices). (hmdb.ca)
  • Six cholic acid derivatives were selected for analysis: taurocholic acid (TCA), taurochenodeoxycholic acid (TCDCA), taurolithocholic acid (TLCA), glycocholic acid (GCA), glycochenodeoxycholic acid (GCDCA), and glycolithocholic acid (GCDCA). (biomedsearch.com)
  • The drugs Acetohydroxamic Acid and Ornithine have been mentioned in the context of this disorder. (malacards.org)
  • Financial burden due to increasing cost of amino acid supplements along with patient non-compliance will decline the amino acid metabolism disorder treatment market growth over the coming years. (gminsights.com)
  • The clinical presentation is dependent upon the specific amino acid disorder. (testcatalog.org)
  • This can be differentiated from other UCDs by the presence of homocitrulline in the urine amino acids and elevated ornithine on plasma amino acids. (psychiatryadvisor.com)
  • This step combines two protein building blocks (amino acids), citrulline and aspartate, to form a molecule called argininosuccinic acid. (medlineplus.gov)
  • Many inborn errors of amino acid metabolism that affect amino acid transport and metabolism have been identified. (testcatalog.org)
  • It is known chemically as 4-phenylbutyric acid, sodium salt with a molecular weight of 186 and the molecular formula C 10 H 11 O 2 Na. (nih.gov)
  • Furchgott RF (1988) Studies on relaxation of rabbit aorta by sodium nitrite: the basis for the proposal that the acid-activatable inhibitory factor from bovine retractor penis is inorganic nitrite and the endothelium-derived relaxing factor is nitric oxide. (springer.com)
  • L-aspartate is a glycogenic amino acid, and it can also promote energy production via its metabolism in the Krebs cycle. (drugbank.ca)
  • As a result of mutation, the inherited defect is reflected downstream as a lack or a partial biological activity of enzymes involved in amino acids metabolism. (intechopen.com)
  • It was the aim of this study to ascertain whether xylenes form phenylmercapturic acids via aromatic epoxides in the human metabolism. (biomedsearch.com)
  • Bile acid metabolism defects, e.g. (abdominalkey.com)
  • It is a precursor to L-malate in the Krebs tricarboxylic acid (TCA) cycle. (hmdb.ca)
  • Pyruvate serves as a biological fuel by being converted to acetyl coenzyme A, which enters the tricarboxylic acid or Krebs cycle where it is metabolized to produce ATP aerobically. (drugbank.ca)
  • Guanidinosuccinic acid (GSA) is noted for its nitric oxide (NO) mimicking actions such as vasodilatation and activation of the N-methyl-D-aspartate (NMDA) receptor. (sigmaaldrich.com)
  • L-aspartate is considered a non-essential amino acid, meaning that, under normal physiological conditions, sufficient amounts of the amino acid are synthesized in the body to meet the body's requirements. (drugbank.ca)
  • If fluoroacetic acid or fluorocitric acid is ingested by animals, for example, citric acid accumulates in the liver. (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)
  • 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)
  • In carbohydrate science , Sugar Acids , as an acyclic acid , are acidic sugars. (wellnessadvocate.com)