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 deficiency — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32671 ICD10 = ICD9 = ICD9|270.6 ICDO = OMIM = 237300 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 314 MeshID = D020165 Carbamoyl phosphate synthetase I deficiency is an inherited… … Wikipedia
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
carbamoyl-phosphate synthase (ammonia) — car·bam·o·yl phos·phate syn·thase (am·mo·nia) (kahr bamґo əl fosґfāt sinґthās ə moґne ə) [EC 6.3.4.16] an enzyme of the ligase class that catalyzes the synthesis of carbamoyl phosphate from ammonia and carbon dioxide, the … Medical dictionary
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