Carbamoyl phosphate synthetase (CPS) deficiency is a urea cycle defect that results from a deficiency in an enzyme that mediates the normal path for incorporation of ammonia. (medscape.com)
Compounds comprising the urea cycle are numbered sequentially, beginning with carbamyl phosphate (1). (medscape.com)
A urea cycle enzyme deficiency targeted workup revealed CPS (carbamyl phosphate synthetase) deficiency which responded well to supportive therapy and was discharged home. (jaccr.com)
Valproate-induced hyperammonemia is probably the result of depletion of mitochondrial acetyl CoA and decreased production of N-acetylglutamate, the obligatory activator of the first enzyme of the urea cycle, carbamyl phosphate synthetase I. Anticonvulsant-mediated microsomal enzyme induction may also contribute. (qxmd.com)
Deficiency8
Patients with OTC deficiency have increased excretion of orotic acid because carbamyl phosphate spills into the cytoplasm, where it enters the pathway of pyrimidine synthesis. (nih.gov)
Understanding carbomyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality. (medscape.com)
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. (medscape.com)
Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old. (medscape.com)
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with caramyl phosphate synthetase I deficiency. (medscape.com)
Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms. (medscape.com)
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. (medscape.com)
Though they are rare the most commonly described enzyme deficiencies are ornithine transcarbamylase and carbamyl phosphate synthetase deficiency. (jaccr.com)
Enzyme8
Carbamoyl phosphate synthetase (glutamine-hydrolysing) (EC 6.3.5.5) is an enzyme that catalyzes the reactions that produce carbamoyl phosphate in the cytosol (as opposed to type I, which functions in the mitochondria). (wikipedia.org)
at this step, N-acetylglutamate exerts its regulatory control on the mediating enzyme, carbamyl phosphate synthetase (CPS). (medscape.com)
Cells grown on glucose showed a high level of a Mn +2 dependent aspartate transcarbamylase (the analogous enzyme to ureidosuccinase which is operative during pyrimidine biosynthesis) which forms ureidosuccinate from aspartate and carbamyl phosphate. (pdx.edu)
Ornithine combined with carbamoyl phosphate is then converted into citrulline via the ornithine transcarbamylase (OTC) enzyme. (healthmatters.io)
The contribution of carbamoyl phosphate results from the metabolism of ammonia by the enzyme carbamoyl phosphate synthase, and if this magnesium-dependent process is impaired, ammonia buildup, or hyperammonemia can occur. (healthmatters.io)
Ornithine can also form polyamines including putrescine via the ornithine decarboxylase (ODC) enzyme, which requires pyridoxal-5-phosphate (vitamin B6) as a cofactor. (healthmatters.io)
Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver. (healthmatters.io)
As an alternative,-20°C,-90°C freezers and dry ice (-80°C) can give more flexibility for storing and transporting material, provided initial freezing has been carried out at-196°C. ATCase specific activity was stable over a large range of total protein concentrations (2-55 mg ml"') for most mesozooplankton samples, and the enzyme activity was linear between 0.8 and 80 nmol carbamyl aspartate min~' mg~' of total protein. (ird.fr)
Mitochondrial2
APAP induced leakage of the mitochondrial protein, carbamoyl phosphate synthase-1 (CPS-1) into the cytosol and which was reduced in the S. +. A group. (arizona.edu)
Site specific 4-HNE adducts were identified on mitochondrial proteins sarcosine dehydrogenase and carbamoyl phosphate synthase-1 (CPS-1). (arizona.edu)
Citrulline1
Following condensation with ornithine, carbamyl phosphate is converted to citrulline in the ornithine transcarbamylase ( OTC ) reaction. (nih.gov)
Aspartate1
However, the K m values for both substrates were variable: from 3.9 to 79.1 for aspartate, and from 0.83 to 3.46 for carbamyl phosphate. (ird.fr)
Neonatal1
Neonatal hyperammonaemia with complete absence of livercarbamyl phosphate synthetase activity. (bmj.com)
Pyrimidine3
Disorders of Purine and Pyrimidine Metabolism Georges van den Berghe PURINE METABOLISM METABOLIC PATHWAYS Purines comprise bases, nucleosides in association with ribose or deoxyribose, and nucleotides with one or more added phosphate groups. (euroasfalti.net)
pyrimidine catabolism phosphate synthetase-II undergo breakdown such that useful parts can be triggered by administration of 5-fluorouracil to with! (euroasfalti.net)
As a phosphoribosyltransferase is … metabolism of purine & pyrimidine nucleotides participate in many organisms carbamoyl phosphate is by. (euroasfalti.net)
Pathway1
Carbamyl phosphate, respectively emphasis on de novo pathway describe the formation ribonucleotides. (euroasfalti.net)
Reaction1
Carbamyl phosphate synthetase ( CPS ), which has been mapped to human chromosome 2, mediates the formation of carbamyl phosphate from NH 3 − , HCO 3 − and ATP ( Fig. 44-6 , reaction 1). (nih.gov)
Ammonia1
CA5A may also participate in the detoxification of ammonia produced in the gastrointestinal tract by providing bicarbonate to carbamyl phosphate synthetase I (7). (bio-techne.com)
Protein1
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. (medscape.com)
Levels3
High levels of a Mg +2 dependent carbamyl phosphate kinase were found in extracts from cells grown on orotate. (pdx.edu)
Low levels of ureidosuccinase, carbamyl phosphate kinase and hydantoinase were found in glucose grown cells. (pdx.edu)
Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase. (medscape.com)
Include1
Halogenated organophosphorus compounds include tris-chloropropyl-phosphate (TCPP), tris-chloroethyl-phosphate, and tris dichloropropyl phosphate (TDCPP) (BMU, 2000). (pops.int)
Normal1
Nucleoside phosphonates have a phosphate-carbon bond that is more resistant to enzymatic cleavage than the normal phosphate-oxygen bond. (harvard.edu)
Synthetase deficiency1
Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800). (nih.gov)
Urea6
Compounds that comprise the urea cycle are numbered sequentially, beginning with carbamyl phosphate. (medscape.com)
Valproic acid given to patients with urea cycle disorders may exacerbate their condition and antagonize the efficacy of AMMONUL through inhibition of the synthesis of N- acetylglutamate, a co-factor for carbamyl phosphate synthetase. (nih.gov)
Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. (nih.gov)
The first stage in the synthesis of urea in animals may be considered to be the formation of carbamyl phosphate the reaction being catalyzed by carbamyl phosphate synthetase. (preservearticles.com)
Carbamyl phosphate supplies one of the nitrogen atoms for urea synthesis. (preservearticles.com)
Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. (nih.gov)
Carbamoyl phosphate7
Carbamoyl phosphate synthetase I Carbamoyl phosphate synthetase III Anderson PM, Meister A (December 1965). (wikipedia.org)
In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. (nih.gov)
In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life. (nih.gov)
Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. (nih.gov)
Its enzymatic counterpart, carbamoyl phosphate synthetase I (CPS I), interacts with a class of molecules called sirtuins, NAD dependent protein deacetylases, and ATP to form carbamoyl phosphate. (hmdb.ca)
The rate-limiting step is carbamoyl phosphate synthetase (CPS) disposal of waste nitrogen. (medscape.com)
Hyperammonemia1
Decreased ureagenesis and hyperammonemia seem to be secondary to inhibition of mitochondrial carbamyl phosphate synthetase (CPS) by intramitochondrial accumulation of organic acids and CoA-esters caused by the defect in propionyl-CoA carboxylase. (mhmedical.com)
Compound2
Carbamoyl phosphate is a moderately acidic compound (based on its pKa). (hmdb.ca)
Carbamoyl phosphate is a potentially toxic compound. (hmdb.ca)
Participates1
Within humans, carbamoyl phosphate participates in a number of enzymatic reactions. (hmdb.ca)
Glucose2
Pyruvate replaced acetate as the major excreted product, and the following intermediates of glycolysis were excreted in significant amounts: glucose-6-phosphate, fructose-1 ,6-diphos- phate, dihydroxyacetone phosphate, and 3-phosphoglycerate. (nih.gov)
Total "C-glucose uptake was measured by filtering a chilled sample and wash- ing it with phosphate buffer containing cold glucose (20 pg/ml). (nih.gov)
Belongs1
Carbamoyl phosphate, also known as carbamoyl-p or phosphate, carbamyl, belongs to the class of organic compounds known as organic phosphoric acids and derivatives. (hmdb.ca)
Patients1
Relation of Macrophage Migration Inhibitory Factor to Pulmonary Hemodynamics and Vascular Structure and Carbamyl-Phosphate Synthetase I Genetic Variations in Pediatric Patients with Congenital Cardiac Shunts. (cdc.gov)