Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.
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Biomedical subjects
Publications and source records attributed to M E Balis.
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A case of xanthinuria is briefly described, and the results of in vivo studies with (14)C-labeled oxypurines are discussed. The data demonstrate that the rate of the turnover of uric acid is normal, despite an extremely small uric acid pool. Xanthine and hypoxanthine pools were measured and their metabolism evaluated. The bulk of the daily pool of 276 mg of xanthine, but only 6% of the 960 mg of hypoxanthine, is excreted. Thus, xanthine appears to be a metabolic end product, whereas hypoxanthine is an active intermediate. Biochemical implications of this finding are discussed.
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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.
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