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- Title
- Lesch‑Nyhan syndrome
- ImagePath
- /Images/Lesch‑Nyhan_syndrome_25c5d020-b4d8-4eba-8af3-0ccbfa2d65f5.webp
- System
- Purine salvage deficiency
- Overview
- X‑linked disorder of purine metabolism characterized by hyperuricemia, neuropsychiatric disturbances, and self‑mutilation.
- Pathophysiology
- Absent hypoxanthine‑guanine phosphoribosyltransferase (HGPRT) → failure of purine salvage → ↑PRPP amidotransferase activity → excess de novo purine synthesis & uric acid.
- Presentation
- Self‑mutilating behavior (biting lips/fingers), dystonia, choreoathetosis, gouty arthritis, orange “sand” sodium urate crystals in diapers.
- Diagnosis
- Elevated serum uric acid, HGPRT enzyme assay, genetic testing of HPRT1 gene.
- Management
- Allopurinol or febuxostat for hyperuricemia; behavioral & protective devices; dopamine agonists or intrathecal baclofen for dystonia.
- Epidemiology
- Rare: ~1 in 380,000; exclusively in males.
- Tags