A rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT.
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- NINDS: Lesch-Nyhan Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
- Patient: Lesch-Nyhan Syndrome Description, pathophysiology, epidemiology, presentation, investigations, differential diagnosis, management, complications, prognosis, prevention and history.