Lesch-Nyhan syndrome
Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This condition primarily affects males and leads to an accumulation of uric acid in the body, resulting in symptoms such as gout, kidney problems, and neurological issues.
Individuals with Lesch-Nyhan syndrome often exhibit self-injurious behaviors, such as biting their lips or fingers, and may experience developmental delays. Treatment focuses on managing symptoms and preventing complications, as there is currently no cure for this condition.