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.

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