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 ...
© 2023 Springer Nature Switzerland AG About this entry 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-...
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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...
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. ...
10 NAGS deficiency is the rarest of the urea cycle disorders. The majority of the mutations appear to be private.43 View chapterExplore book Related terms: Citrulline Glutamine Arginine Ammonium Pyrophosphate Amino Acid N Acetylglutamic Acid Synthetase Carbamoyl Phosphate Urea Cycle Disorder Vi...
Carbamoyl Phosphate Formation Mitochondrial carbamoyl phosphate formation, the first and also rate-limiting reaction in the urea cycle, is catalyzed by carbamoyl phosphate synthetase-1 (CPS-1). A CPS-2 exists in the cytoplasm; however, it uses a different nitrogen source, and participates in pyrimi...
Genes for carbamoyl-phosphate synthetase II (CPS II), the first enzyme of de novo pyrimidine biosynthesis, were cloned from kinetoplastids, Trypanosoma cru... NS Aoki - Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology 被引量: 15发表: 1998年 Metabolism and Function...
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder Introduction: Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-th... Carmen,Diez-Fernandez,...
Huizing2, Gema E. González-Luis4, Fabio Mosca3 & Eduardo Villamor2 The p.Thr1406Asn (rs1047891) polymorphism of the carbamoyl-phosphate synthetase 1 (CPS1) gene has been linked to functional consequences affecting the downstream availability of the nitric oxide precursor L-arginine...