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Lesch–Nyhan Disease
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Abstract
Lesch–Nyhan disease is caused by an inherited deficiency of the purine salvage enzyme hypoxanthine guanine phosphoribosyltransferase. Affected individuals display hyperuricemia and specific neurobehavioral features, including a hyperkinetic movement disorder, behavioral disturbances and self‐injurious behavior, which are thought to be attributable to dysfunction of the basal ganglia dopamine system.
Title: Lesch–Nyhan Disease
Description:
Abstract
Lesch–Nyhan disease is caused by an inherited deficiency of the purine salvage enzyme hypoxanthine guanine phosphoribosyltransferase.
Affected individuals display hyperuricemia and specific neurobehavioral features, including a hyperkinetic movement disorder, behavioral disturbances and self‐injurious behavior, which are thought to be attributable to dysfunction of the basal ganglia dopamine system.
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Lesch–Nyhan Syndrome
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