carbamoyl phosphate synthetase deficiency

carbamoyl phosphate synthetase deficiency
car·bam·o·yl phos·phate syn·the·tase de·fi·cien·cy (kahr-bamґo-əl fosґfāt sinґthə-tās) an autosomal recessive aminoacidopathy caused by mutations in the CPS1 gene (locus: 2q35), which encodes carbamoyl-phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without oroticaciduria, protein intolerance, and neurologic disorders. Symptoms may begin in the neonatal period or appear later in infancy, with varying degrees of severity. Written also carbamoyl phosphate synthetase I (CPSI) deficiency.

Medical dictionary. 2011.

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  • Carbamoyl phosphate synthetase I — Protein Name=carbamoyl phosphate synthetase 1, mitochondrial caption= Symbol=CPS1 AltSymbols= HGNCid=2323 Chromosome=2 Arm=p Band= LocusSupplementaryData= ECnumber=6.3.4.16 OMIM=608307 EntrezGene=1373 RefSeq=NM 001875 UniProt=P31327 PDB=Carbamoyl …   Wikipedia

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