Article
An unexpected affected female patient in a classical Lesch-Nyhan family.
Molecular genetics and metabolism - 1 Mar 2000
De Gregorio L, Nyhan W L, Serafin E, Chamoles N A
Abstract excerpt
Lesch-Nyhan disease is a genetic disorder of purine metabolism caused by defective activity of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26). The classical phenotype, which includes spasticity, involuntary movements, developmental disability, and self-injurious behavior, occurs exclusively in males,...
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