HPRT1 XR unreviewed
Lesch-Nyhan syndrome
Enzyme or protein defect
Hypoxanthine-guanine phosphoribosyltransferase
Accumulates or becomes deficient
Uric acid
Key features
Hyperuricaemia, gout, orange sand in nappies, self-mutilation, choreoathetosis, intellectual disability
Management
Allopurinol; behavioural protection
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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