Urinary Metabolites in Congenital Hyperuricosuria

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Abstract
The excretion of oxypurine metabolites in urine of patients with congenital hyperuricosuria exceeds, on a creatinine basis, that observed in any previously recognized metabolic anomaly. The ratio of hypoxanthine to xanthine is from 2:1 to 3:1 and results from increased hypoxanthine excretion, in contrast to other hyperuricosuric conditions where ratios of less than one have been reported. Administration of allopurinol (a xanthine-oxidase inhibitor) reduces the excretion of uric acid but results in an equivalent increase in xanthine and hypoxanthine. These features appear to be unique to congenital hyper-uricosuria.