What is Lesch-Nyhan Disease?

Lesch-Nyhan syndrome is a disorder that is passed down through families. It affects how the body builds and breaks down purines. Purines are a normal part of the human tissue that helps make up the body’s genetic blueprint. Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body. Symptoms of LNS include gout, which is characterized by high levels of uric acid, painful joints, poor muscle coordination, and moderate intellectual disabilities. Individuals with LNS also demonstrate self-mutilating behaviors, including lip and finger biting, which usually appear during the second year of life. LNS is apparent at birth. There is no cure for the disorder. Instead, treatment aims to reduce symptoms and prevent complications. The prognosis for people with LNS is poor, with most individuals experiencing fatal kidney problems during the first or second decade of life. Few people with LNS live beyond 40 years of age.

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