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Lesch-Nyhan syndrome

Lesch-Nyhan syndrome A rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). The lack of HPRT causes a buildup of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. Affected individuals also display self-mutilating behaviors such as lip and finger biting, beginning in the second year of life. Elevated uric acid levels can damage many organs, including the joints, kidneys, central nervous system, and other tissues of the body, leading to swelling in the joints and severe kidney disease. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs. The prognosis is poor, with death usually occurring in the first or second decade of life.