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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, neurologic abnormalities, and orotic aciduria. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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