Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is a congenital X-linked metabolic disorder caused by a mutation in the gene encoding an enzyme involved in purine metabolism. Deficiency of this enzyme results in excessive production of uric acid, leading to nephrolithiasis, gouty arthritis, and the formation of subcutaneous urate deposits (tophi). In addition, affected individuals develop neurological and behavioral abnormalities characterized by hyperkinetic movements, predominantly dystonia, attention deficits, and self-injurious behavior. In cases of partial enzyme deficiency, the disorder may present with a milder phenotype and may occur without neurological or behavioral manifestations.

Source | Author Doctor Nikas Samuolis, reviewed by Prof. Virginijus Šapoka | Vilnius University | Faculty of Medicine | Head of the Department of Internal Medicine, Family Medicine, and Oncology