Enzyme or protein defect
Ornithine transcarbamylase
Accumulates or becomes deficient
Ammonia; orotic acid HIGH
Key features
Commonest urea cycle defect; hyperammonaemia, vomiting, encephalopathy; low BUN, no megaloblastic anaemia
Management
Low-protein diet, benzoate/phenylbutyrate, arginine/citrulline
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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