Lesch-Nyhan syndrome

Lesch-Nyhan syndrome  affects metabolic processes and is linked to the X chromosome. A genetic mutation impacts the purine metabolism enzyme. With insufficient enzyme levels, the body overproduces uric acid. This leads to kidney stones, gouty arthritis, and the formation of subcutaneous uric acid deposits known as tophi. Additionally, patients with Lesch-Nyhan Syndrome often show neurological and behavioral disturbances. Common symptoms include hyperkinetic movements, predominantly dystonia, attention deficits, and self-injurious behavior. When enzyme deficiency is partial, the disease may manifest partially and might not include neurological or behavioral symptoms.

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