Enzyme or protein defect
Homogentisate 1,2-dioxygenase
Accumulates or becomes deficient
Homogentisic acid
Key features
Urine darkens on standing, ochronosis of cartilage, degenerative arthritis
Management
Usually benign; vitamin C, nitisinone in trials
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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