摘要：

Lesch–Nyhan disease results from mutations of the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase. Patients typically suffer generalized dystonia, recurrent self-injurious behavior, cognitive disability, and overproduction of uric acid. A definitive laboratory diagnosis is achieved with genetic or biochemical tests. Treatment focuses on controlling uric acid and neurobehavioral difficulties.

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