| ornithine carbamoyltransferase |
[EC 2.1.3.3] an enzyme of the transferase class that catalyzes the carbamoylation of ornithine by carbamoyl phosphate to form citrulline. The reaction occurs in liver mitochondria as part of the urea cycle (see illustration at urea cycle). Called also ornithine transcarbamoylase (OTC). Abbreviated OCT.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|
|---|---|
| ornithine carbamoyltransferase (OCT) deficiency |
an X-linked aminoacidopathy involving the biosynthesis of urea; most hemizygous males show complete deficiency and do not survive the neonatal period; heterozygous females show varying degrees of deficiency and age of onset. Characteristic signs include hyperammonemia, neurologic abnormalities, and oroticaciduria. Called also ornithine transcarbamoylase (OTC) deficiency.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|