Car- bamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Prenat Diagn 2001;21:634-7.Aoshima T, Kajita M, Sekido Y et al. Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Prenat Diagn 2001: 21 (8): 634-637....
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...
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Carbamoyl phosphate synthetase deficiency (CPSD) is an autosomal recessive disorder of ureagenesis. Untreated patients with complete CPSD die as neonates of hyperammonemia. Since CPS is not expressed in amniocytes, prenatal detection is limited to in utero liver biopsy. To determine if the CPS ...
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...
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...
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency. Mol Genet Metab 01, 311–323 (2010). 23. Summar, M. L. et al. Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Mol Genet Metab 81 ...
Cell and Gene Therapy for Carbamoyl Phosphate Synthetase 1 Deficiency Carbamoyl phosphate synthetase 1 (CPS1) is the first and rate-limiting enzyme in the urea cycle. CPS1 deficiency is a devastating condition, which is clini... Y Zhang,B Li - 《Journal of Pediatrics & Neonatal Care》 被引量...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook Also found in:Thesaurus,Medical,Encyclopedia,Wikipedia. car·bam·o·yl (kär-băm′ō-ĭl′) n. The univalent organic group NH2CO-. [carbam(ic acid)+-yl.] ...