A rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT.
Related categories 2
Sites 2
- 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.