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Science 19 December 1969:
Vol. 166. no. 3912, pp. 1533 - 1535
DOI: 10.1126/science.166.3912.1533

Articles

Purine Metabolism in Heterozygous Carriers of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

B. T. Emmerson 1 and J. B. Wyngaarden 2

1 Department of Medicine, University of Queensland, Brisbane, Australia
2 Department of Medicine, Duke University Medical Center, Durham, North Carolina

The urate pool and daily turnover of urate, together with the rate of incorporation of glycine into urate, were measured in three asymptomatic mothers who had sons with various degrees of deficiency of hypoxanthine-guanine phosphoribosyltransferase activity. Two of these mothers had abnormally increased values for the urate pool, urate turnover, and 24-hour urinary excretion of uric acid. These two mothers also had reduced hypoxanthine-guanine phosphoribosyltransferase activity and increased adenine phosphoribosyltransferase activity in erythrocyte lysates. All three mothers showed an abnormal increase in urate production, as judged by the rate of incorporation of glycinie into urate.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase: Intermediate Enzyme Deficiency in Heterozygote Red Cells.
B. T. EMMERSON, C. J. THOMPSON, and D. C. WALLACE (1972)
Ann Intern Med 76, 285-287
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Science. ISSN 0036-8075 (print), 1095-9203 (online)