Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This condition primarily affects males and leads to a buildup of uric acid in the body. Symptoms often include developmental delays, intellectual disability, and involuntary movements, as well as impulsive behaviors that can result in self-injury. People with Lesch-Nyhan syndrome may also experience kidney problems and other health concerns. Management focuses on symptomatic treatment, as there is currently no cure for the condition.