The dissociation of the cofactor, acetylglutamate, from the enzyme-cofactor complex formed by carbamoyl-phosphate synthetase I of rat liver in the presence of ATP, Mg2+, K+ and HCO-3 has been studied by centrifugal gel filtration. The rate of its dissociation (k, 0.13 s-1) is considerably...
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Cite this entry Noroozi, A., Barzegary, A., Karimi, A., Rezaei, N. (2023). Carbamoyl Phosphate Synthetase I Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1727-1 Download citation .RIS .ENW .BIB DOIhttps://doi.org...
翻译 carbamoyl phosphate synthetase 英[kɑ:ˈbæməil ˈfɔsˌfeɪt ˈsɪnθɪˌteɪs] 美[kɑrˈbæmoˌɪl ˈfɑsˌfet ˈsɪnθɪˌtes] 释义 [医]氨甲酰磷酸合成酶 释义
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Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D). CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. ...
Carbamoylphosphate synthetase 1 (CPS1) deficiency is a rare inborn error of metabolism leading often to neonatal onset hyperammonemia with coma and high mortality. The biochemical features of the disease are nonspecific and cannot distinguish this condition from other defects of the urea cycle, namely...
These metabolic processes require the action of carbamoyl phosphate synthetase (CPS) isozymes with different subcellular localization. The mitochondrial isoform (isozyme 1), mainly expressed in hepatocytes, participates in the synthesis of urea. It requires N-acetyl glutamate as an allosteric act...
Use of carbamoyl phosphate synthetase 1 (CPS 1) and/or of fragments of the N-terminal part of CPS 1 from body fluids or body tissues as marker peptides for the diagnosis and for the prognosis and the monitoring of inflammations and infections, including sepsis, and of liver failure as par...