ornithine carbamoyltransferase deficiency


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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, neurological abnormalities, and orotic aciduria.
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