Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood...

the synthesis of pyrimidines. Its enzymatic counterpart, carbamoyl phosphate synthetase I (CPS I), interacts with a class of molecules called sirtuins,...

carbamoyl phosphate synthetase I, a mitochondrial enzyme that catalyzes the first and rate-limiting step of the urea cycle by synthesizing carbamoyl phosphate...

synthase deficiency Online Mendelian Inheritance in Man (OMIM): 237300 - hyperammonemia due to carbamoyl phosphate synthetase I deficiency (carbamoyl phosphate...

Cycle Disorder or Urea Cycle Defects Carbamoyl phosphate synthetase I deficiency Citrullinemia type II (citrin deficiency) Disorders of organic acid metabolism...

an NEJM paper in which a child with a liver disorder, Carbamoyl phosphate synthetase I deficiency, received CRISPR gene editing technology. The disorder...

and thus the error in gene's coding for this specific enzyme. Carbamoyl phosphate synthase I is an enzyme found in mitochondrial matrix and it catalyzes...

carbamoyl phosphate synthetase I and requires the use of two ATP molecules. The carbamoyl phosphate then enters the urea cycle. Carbamoyl phosphate is...

Caratolo–Cilio–Pessagno syndrome Carbamoyl phosphate synthetase deficiency Carbamoyl phosphate synthetase I deficiency Carbohydrate deficient glycoprotein...

into carbamoyl phosphate (H 2NC(O)OPO2− 3) by carbamoyl phosphate synthetase. Ornithine transcarbamylase then catalyzes the reaction between carbamoyl phosphate...

a transfer is written as carbamoyl phosphate + L-aspartate → {\displaystyle \rightarrow } L-carbamoyl aspartate + phosphate. Enzymes that transfer aldehyde...

citrullinemia type I needs to be distinguished from the others: carbamoyl phosphate synthetase deficiency, argininosuccinic acid lyase deficiency, ornithine transcarbamylase...

involves the enzyme carbamoyl phosphate synthase combining glutamine with CO2 in an ATP dependent reaction to form carbamoyl phosphate. Aspartate carbamoyltransferase...

used for the treatment of hyperammonaemia. Carglumic acid is a carbamoyl phosphate synthetase 1 (CPS 1) activator. The most common adverse effects include...

and phosphates. Uracil serves as allosteric regulator and coenzyme for reactions in animals and in plants. UMP controls the activity of carbamoyl phosphate...

homologous to other N-terminal nucleophile (Ntn) hydrolases such as carbamoyl phosphate synthetase (CPSase). Nine invariant residues among the sequences of all...

to carbamoyl phosphate, resulting in toxic ammonia accumulation. Carbamoyl glutamate has shown promise as a possible treatment for NAGS deficiency. This...

malformation-arteriovenous malformation; 608354; RASA1 Carbamoyl phosphate synthetase I deficiency; 237300; CPS1 Carbohydrate-deficient glycoprotein syndrome...

example, RHEB is an activator for nucleotide synthesis by binding carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), an...

mitochondrial enzymes involved in the urea cycle (such as ammonia-dependent-carbamoyl-phosphate synthase or CPS1), and inhibits its mechanism of action. The combination...

urea cycle. N-acetyl-L-glutamate is an allosteric activator of carbamoyl phosphate synthetase, a crucial enzyme that commits NH4+ molecules to the urea cycle...

Verduzco, J.; Prieto, E.; Velázquez, A. (1980). "Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic...

cycle defects, such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase deficiency are not included in newborn screening panels because...

050 – abetalipoproteinemia MeSH C18.452.100.100.162 – carbamoyl-phosphate synthase I deficiency disease MeSH C18.452.100.100.175 – citrullinemia MeSH C18...

have been described in carbamoyl phosphate synthetase 1, argino-succinate synthetase and ornithine carbamoyltransferase deficiency.: 63–65  The most recent...

210.490 – Hartnup disease MeSH C16.320.565.066.275 – carbamoyl-phosphate synthase I deficiency disease MeSH C16.320.565.066.340 – citrullinemia MeSH C16...