ornithine carbamoyltransferase (OCT) deficiency

ornithine carbamoyltransferase (OCT) deficiency
or·ni·thine car·ba·mo·yl·trans·fer·ase (OCT) de·fi·cien·cy (orґnĭ-thēn kahr-bam″o-əl-transґfər-ās) an aminoacidopathy due to mutation in the OTC gene (locus: Xp21.1), which encodes ornithine carbamoyltransferase, an enzyme of the urea cycle; 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.

Medical dictionary. 2011.

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