Family study of hereditary xanthine (xanthine oxidase deficiency ):increased urinary excretions of xanthine and hypoxanthine in heterozygotes and association with gout in a heterozygote

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Family members of two brothers with hereditary xanthinuria (xanthine oxidase deficiency) were studied. The xanthine oxidase activities in the duodenal mucosa from the parents were about half that of normal subjects (father 9.3 and mother 12.8mU/g tissue vs. controls 20.6±6.5mU/g tissue, Mean±SD), suggesting they were heterozygotes. In the parents, plasma xanthine and hypoxanthine concentrations were normal, while urinary xanthine and hypoxanthine excretions were significantly higher, than those of normal subjects (xanthine: father 11.6 and mother 18.2mg/g creatinine υ<I>s</I>. normal value 6.7 to 10.3mg/g creatinine, hypoxanthine 9.4 and 11.0mg/g creatinine vs.4.1 to 6.9mg/g creatinine). Similar findings were obtained in the daughter of the elder brother and in the aunt. These indicated that a metabolic blockage existed at the step of xanthine oxidase in the parents and other heterozygotes. Although the urate synthesis was impaired at the xanthine oxidase step, the father had hyperuricemia (9.1mg/dl) due to the decreased renal excretion of urate and gout.
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