Enzyme or protein defect
Carbamoyl phosphate synthetase I
Accumulates or becomes deficient
Ammonia; orotic acid NORMAL/LOW
Key features
Neonatal hyperammonaemia, lethargy, coma
Management
Nitrogen scavengers; N-carbamylglutamate in NAGS deficiency
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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