Enzyme or protein defect
Argininosuccinate synthetase
Accumulates or becomes deficient
Citrulline
Key features
Hyperammonaemia, vomiting, encephalopathy
Management
Protein restriction, arginine, scavengers
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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