A case of classical xanthinuria (type 1) with diabetes mellitus and Hashimoto's thyroiditis

In a 62-year-old woman with non-insulin-dependent diabetes mellitus and Hashimoto's thyroiditis, hypouricemia was detected by a routine examination. Her plasma uric acid level was markedly low and urinary excretion of uric acid was undetectable. The high plasma and urine levels of xanthine were observed, although those of hypoxanthine were within normal ranges at rest after an overnight fast. After taking diet, plasma concentration and urinary excretion of hypoxanthine were markedly increased together with those of xanthine. The xanthine oxidase activity of duodenal mucosa was below the limits of detection. Allopurinol was metabolized to oxypurinol and pyrazinamide to 5-hydroxypyrazinamide in spite of no activity of xanthine oxidase, suggesting that aldehyde oxidase converted allopurinol to oxypurinol and pyrazinamide to 5-hydroxypyrazinamide. Based on these findings, she was diagnosed as having a subtype of classical xanthinuria type 1 with the normal plasma concentration of hypoxanthine in fast.