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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Saugstad, O., Marklund, S. High concentrations of glutathione peroxioase (GP) and superoxide dismutase (SOD) in Lesch - Nyhan patients. Pediatr Res 22, 237 (1987). https://doi.org/10.1203/00006450-198708000-00142
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DOI: https://doi.org/10.1203/00006450-198708000-00142