What is Lesch-Nyhan Syndrome?

This devastating disease results in abnormal motor development that often resembles cerebral palsy, severe mental retardation, and a compulsion to engage in self-injurious behavior. Lesch-Nyhan syndrome (LNS) is an inherited, metabolic disorder characterized by an almost complete absence of the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT) , which is responsible for the metabolism of purine. It is found only in males and is recognized by the excessive production of uric acid and several neurological conditions, including motor abnormalities and self-mutilation.


US: Reported prevalence is 1 per 380,000.
Internationally: Same as in the US
    -Few people live past 40 years of age.
    -Effects most races
    -Equal among ethnic groups


Due to the severe nature of this disorder, materials in this website may be disturbing to some viewers. Our purpose is to provide an informative and comprehensive resource to encourage a better understanding of Lesch-Nyhan Syndrome.