Enzyme or protein defect
Argininosuccinate lyase
Accumulates or becomes deficient
Argininosuccinate
Key features
Hyperammonaemia, trichorrhexis nodosa (brittle hair)
Management
Arginine supplementation, 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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