Lesch-Nyhan syndrome (LNS) is an inborn error of metabolism. Choreoathetosis, mental retardation and self-harming are the three symptoms. A genetic test that analyses gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT) blood tests showing hyperuricaemia support diagnosis. However, relevance these results to clinical symptoms unclear. 25 years-old man consulted our hospital for s...

Lesch-Nyhan disease is a rare, X-linked disorder, related to defi ciency of the purine salvage enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT). In addition to uric acid overproduction, HPRT defi ciency aff ects motor and cognitive function and is associated with behavioural disturbances caused by unknown pathophysiological changes. Since it was fi rst described, it has been known th...