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Lesch–Nyhan syndrome
Lesch–Nyhan syndrome Lesch–Nyhan syndrome is an inherited sex-linked disorder caused by deficiency of the purine-metabolism enzyme hypoxanthine phosphoribosyltransferase.
Lesch–Nyhan syndrome is an inherited sex-linked disorder caused by deficiency of the purine-metabolism enzyme hypoxanthine phosphoribosyltransferase. After appearing normal in the first year of life, affected people may develop delays in movement and development, abnormal movements, increasing muscle stiffness, seizures, and frequent self-injurious behavior such as biting the lips or fingers; uric acid can also build up and cause kidney stones and gout.