Purine Metabolism in Heterozygous Carriers of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
- 19 December 1969
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 166 (3912), 1533-1535
- https://doi.org/10.1126/science.166.3912.1533
Abstract
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.Keywords
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