Lesch Nyhan Syndrome: A Rare Occurrence

Abstract

Human populations display a marked variation in their patterns of health and disease. This variation, may have multiple underlying causes, which may not be completely in the hands of an individual. One such condition is “Lesch Nyhan Syndrome”, a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome, where persons affected are cognitively impaired and have behavioral disturbances and an uncontrollable self-injury causing habit. This paper is a case report of this extreme condition.