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Lesch-Nyhan Syndrome Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Studies with patients Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome?Is there any treatment? What is the prognosis? What research is being done? Organizations What is Lesch-Nyhan Syndrome? Lesch-Nyhan syndrome (LNS) is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. It is an X-linked recessive disease, and the gene has been localized to the long arm of the X chromosome. LNS is characterized by self-mutilating behaviors such as lip and finger biting and/or head banging. The symptoms of LNS usually appear between the ages of 3 and 6 months. Frequently the first symptom is the presence of orange-colored crystal-like deposits (orange sand) in the diapers of affected infants. The deposits, which are called urate crystal formation, are caused by increased levels of uric acid in the urine. Uric acid levels, which are abnormally high in individuals with LNS, may also cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body. Other symptoms of LNS may include kidney stones, blood in the urine, pain and swelling of the joints, difficulty swallowing (dysphagia) and eating, and vomiting, impaired kidney function, irritability, uncontrolled aggressive and/or compulsive actions, muscle weakness (hypotonia), uncontrolled spastic muscle movements, and neurological problems such as involuntary writhing movements of the arms and legs (athetosis) and purposeless repetitive movements (chorea) such as shoulder raising and lowering and/or facial grimacing. Moderate mental retardation is also common. Some individuals may develop a rare disorder called megaloblastic anemia. Is there any treatment? What is the prognosis? What research is being done? Purine Research Society
National Organization for Rare Disorders (NORD)
National Institute of Child Health and Human
Development (NICHD)
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