Abstract

Lesch-Nyhan patients have high concentrations of hypoxanthine in their tissues and body fluids. Since hypoxanthine is a potential oxygen radical generator these patients might be susceptible to a higher oxidative stress than healthy controls. To test this hypothesis we have measured the concentrations of different oxygen radical scavengers in five patients with the Lesch - Nyhan syndrome. These data indicate that Lesch-Nyhan patients are exposed to a higher oxidative load than healthy controls. It is suggested that abundant oxygen radicals are formed through the hypoxanthine - xanthine oxidase system in these patients and it is speculated whether these findings can explain some of the clinical features in Lesch - Nyhan patients.

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