This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
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.
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.
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.
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.
An essential amino acid that is physiologically active in the L-form.
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.
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.
An amino acid intermediate in the metabolism of choline.
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.

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 ...
Argininosuccinic Aciduria; Arginino Succinase Deficiency. 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)] ...
NeoMass AAAC kit for newborn screening is used with Tandem Mass Spectrometry to detect concentrations of amino acid, free carnitine, acylcarnitines, succinylacetone and argininosuccinic acid.
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 ...
AAUCD : Urea cycle disorders (UCD) are a group of inherited disorders of nitrogen detoxification that result when any of the enzymes in the urea cycle (carbamoylphosphate synthetase I: CPS I; ornithine transcarbamylase: OTC; argininosuccinic acid synthetase; argininosuccinic acid lyase; arginase; or the cofactor producer, N-acetyl glutamate synthetase: NAGS), have deficient or reduced activity. The role of the urea cycle is to metabolize and clear waste nitrogen, and defects in any of the steps of the pathway can result in an accumulation of ammonia, which can be toxic to the nervous system. The urea cycle is also responsible for endogenous production of the amino acids citrulline, ornithine, and arginine. Infants with a complete urea cycle enzyme deficiency typically appear normal at birth, but present with in the neonatal period as ammonia levels rise with lethargy, seizures, hyper- or hypoventilation, and ultimately coma or death. Individuals with partial enzyme deficiency may present later in life,
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 ...
In on you are told that Aiden cries and fights during the dressing change-over but in another manner seems to be playing and not experiencing much pain. Annals of the Chic York Academy of Sciences, 1070, 276В-281. Laser therapy is performed nether anaesthesia in an outpatient preoperative environment cheap 75mg plavix fast delivery arrhythmia guidelines 2013. The reduced reciprocated word and strong attenuation of reticent sources draw that during the PTZ-induced seizures, since there was a dear CCC between all electrodes, there is highly synchronized vigour between dominant areas of the brain. In adding to screening for the purpose hearing loss, the Tread of Dimes currently recommends universal newborn metabolic screening tests in return 29 disorders since which useful treatment is ready (March of Dimes, 2010): В· Amino acid metabolism disorders: phenylketonuria, maple syrup urine cancer, homocystinuria, citrullinemia, argininosuccinic acidemia, tyrosinemia group I В· Organic acid ...
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 ...
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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.
SWISS-MODEL Repository entry for B3ECP3 (ARLY_CHLL2), Argininosuccinate lyase. Chlorobium limicola (strain DSM 245 / NBRC 103803 / 6330)
The RARS2 gene provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase. Learn about this gene and related health conditions.
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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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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 ...
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 ... If individuals with a defect in any of the six enzymes used in the cycle ingest amino acids beyond what is necessary for the ... 1](p.734) The urea cycle and the citric acid cycle are independent cycles but are linked. One of the nitrogen atoms in the urea ...
... 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 ...
... , is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA ... 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 ...
X-linked Acid maltase deficiency Acidemia, isovaleric Acidemia, propionic Acitretine antenatal infection Ackerman syndrome Acne ... syndrome Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic ... X linked Arachindonic acid, absence of Arachnodactyly Arachnodactyly ataxia cataract aminoaciduria mental retardation ... Arnold-Stickler-Bourne syndrome Arnold-Chiari malformation Aromatase deficiency Aromatase excess syndrome Aromatic amino acid ...
NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and ... Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ... Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in ... With the advent of tandem mass spectrometry as a screening tool, several fatty acid oxidation disorders were targeted for ...
... the blood vessel which supplies the anterior portion of the spinal cord Argininosuccinic aciduria, a disorder of the urea cycle ... accessible to a solvent Acetylsalicylic acid, aspirin Advanced surface ablation, refractive eye surgery Anterior spinal artery ...
... pyrrolidonecarboxylic acid MeSH D12.125.068.050 - arginine MeSH D12.125.068.050.075 - argininosuccinic acid MeSH D12.125. ... 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 - ... aspartic acid MeSH D12.125.067.500.150 - d-aspartic acid MeSH D12.125.067.500.275 - isoaspartic acid MeSH D12.125.067.500.400 ... argininosuccinic acid MeSH D12.125.095.104.095 - benzoylarginine-2-naphthylamide MeSH D12.125.095.104.100 - benzoylarginine ...
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 ...
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 Synthetase Deficiency; CTLN1; Citrullinemia, Classic GeneReviews/NIH/UW entry on Citrin deficiency and ...
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. ...
ARGININOSUCCINIC ACID BARIUM SALT:2H2O (ARGININE-13C6, 99%; 15N4, 99%) 90%+ CP. We are specialized in manufacturing Stabel ... 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 ↔ L-Arginine + Fumaric acid L-Aspartic acid + Adenosine triphosphate + Citrulline ↔ Adenosine ... Argininosuccinic acid is a very strong basic compound (based on its pKa). Argininosuccinic acid exists in all living species, ... Argininosuccinic acid, also known as L-argininosuccinate or ASA, belongs to the class of organic compounds known as aspartic ... Aspartic acid and derivatives are compounds containing an aspartic acid or a derivative thereof resulting from reaction of ...
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 ...
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. ...
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 ...
Fingerprint Dive into the research topics of Fetal tissue amino acid concentrations in argininosuccinic aciduria and in ... Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria". ...
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 ...
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 ...
... also known as argininosuccinic aciduria and AS, also known as citrullinemia. In citrullinemia, argininosuccinic acid is ... The laboratory evaluation will include the quanitative analysis of plasma amino acid and urine organic acids/urine orotic acid ... In AS, there will be a moderate increase in citrulline with increased levels of argininosuccinic acid and its anhydrides.[56] A ... argininosuccinic acidemia (AS), and argininosuccinic lyase deficieny (AL) deficiencies.[46] NAGS, CPS, AS, and AL are autosomal ...
... 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) ...
Replica of Argininosuccinic acid. reference substance. supplier. supplier code. lot. Argininosuccinic acid. Sigma. A5707. ... Details Argininosuccinic acid. rotate: click+drag; translate: alt. +click+drag; zoom: mousewheel; save: mol ... Argininosuccinic acid. Sigma. A5705. 048K7014. Argininosuccinic acid. Aldrich. A5707. 089K7011. Argininosuccinic acid. Sigma. ...
Argininosuccinic Acid / pharmacology * Cell Line * Cell Survival* * Humans * Immunity, Cellular * Interferon-gamma / physiology ...
Argininosuccinic acid. 0.0−85.4. 0.0−74.8. 0.0−74.7. 0.0−173.1. 0.0−51.2 ...
... and argininosuccinic acid was found exclusively in the two patients with argininosuccinic acid lyase deficiency (Fig. 3).. Open ... d15-octanoic acid, d19-decanoic acid, d27-tetradecanoic acid, and d35-octadecanoic acid. Standards for positive ion mode ... d15-octanoic acid, d19-decanoic acid, d27-tetradecanoic acid, and d35-octadecanoic acid. Standards for positive ion mode ... including targeted panel assays for amino acids, acylcarnitines, organic acids, purines, pyrimidines, acylglycines, bile acids ...
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 ...
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 ...
Argininosuccinic acid in plasma and urine permits the specific diagnosis of Argininosuccinic lyase deficiency. The diagnostic ... Argininosuccinic aciduria is a disorder of the urea acid cycle. Although patients may present at any age, the onset is more ... This is the fourth step in the urea acid cycle in the liver. Argininosuccinic lyase is involved in the conversion of the ... The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe ...
6 amino acids were below LOQ in all serum samples (phosphoserine, argininosuccinic acid, homocitrulline, anserine, carnosine ... argininosuccinic acid. 111.5. 85.1. 16.7 - 451.0. 108.2. 87.6. 38.3 - 288.6. 0.695. 0.524. ... Urine amino acid profiles. LC-ESI-MS/MS analyses of urine samples. Free amino acid profiles in urine samples were obtained for ... Serum amino acid profiles. LC-ESI-MS/MS analyses of serum samples. Free amino acid profiles in serum samples of prostate cancer ...
... to form a molecule called argininosuccinic acid. A series of additional chemical reactions uses argininosuccinic acid to form ... Most of the mutations involved in type I citrullinemia change single amino acids in the argininosuccinate synthase 1 enzyme. ... This step combines two protein building blocks (amino acids), citrulline and aspartate, ...
  • Argininosuccinic aciduria (ASA) is a type of urea cycle disorder that is characterized specifically by high levels of argininosuccinic acid, a chemical involved in the urea cycle. (clinicaltrials.gov)
  • Argininosuccinic aciduria is a disorder of the urea acid cycle. (renalandurologynews.com)
  • Who is at Risk for Developing Argininosuccinic Aciduria? (renalandurologynews.com)
  • Argininosuccinic aciduria is a rare disorder and may be one of many metabolic abnormalities considered in any child with significant metabolic derangements specifically associated with hyperammonemia. (renalandurologynews.com)
  • Argininosuccinic aciduria is an autosomal recessive trait. (renalandurologynews.com)
  • What is the Cause of Argininosuccinic Aciduria? (renalandurologynews.com)
  • Argininosuccinic aciduria is caused by mutations in the argininosuccinate lyase gene (ASL) which catalyzes the cleavage of the argininosuccinate to fumarate and arginine. (renalandurologynews.com)
  • Patients with argininosuccinic aciduria (AA) are treated with a low-protein diet, caloric supplementation, and arginine free base. (clinicaltrials.gov)
  • Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. (thermofisher.com)
  • Quantification of orotic acid (uracil-6-carboxylic acid) in urine is an important tool to diagnose some inherited diseases, such as urea cycle disorder (OTCD) and hereditary orotic aciduria. (biomedsearch.com)
  • Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (cdc.gov)
  • Argininosuccinic aciduria usually becomes evident in the first few days of life. (cdc.gov)
  • An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. (cdc.gov)
  • Complications from argininosuccinic aciduria may include developmental delay , intellectual disability , progressive liver damage, skin lesions, and brittle hair. (cdc.gov)
  • 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 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)
  • Most of the mutations involved in type I citrullinemia change single amino acids in the argininosuccinate synthase 1 enzyme. (medlineplus.gov)
  • 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)
  • 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)
  • Argininosuccinic acid, also known as L-argininosuccinate or ASA, belongs to the class of organic compounds known as aspartic acid and derivatives. (ymdb.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)
  • All of these compounds utilize, or derive from, the essential amino acids provided by the diet. (directlabs.com)
  • 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)
  • 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)
  • Assessment of metabolic defects resulting in abnormal amino acid metabolism. (umich.edu)
  • Studies suggest that the underlying cause of the hyperammonemia is the inhibition of N -acetylglutamate synthase (NAGS) activity by free propionic acid. (medscape.com)
  • Growing prevalence of hyperammonemia will spur the demand of carglumic acid over the analysis period. (gminsights.com)
  • 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)
  • 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)
  • 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)
  • 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)