Emmerson B T, Wyngaarden J B
Department of Medicine, University of Queensland, Brisbane, Australia.
Science. 1969 Dec 19;166(3912):1533-5. doi: 10.1126/science.166.3912.1533.
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.
在三位无症状母亲中测量了尿酸盐池、尿酸盐的每日周转率以及甘氨酸掺入尿酸盐的速率，她们的儿子患有不同程度的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶活性缺乏。其中两位母亲的尿酸盐池、尿酸盐周转率和尿酸的24小时尿排泄量值异常增加。这两位母亲红细胞裂解物中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶活性降低，腺嘌呤磷酸核糖转移酶活性增加。根据甘氨酸掺入尿酸盐的速率判断，所有三位母亲的尿酸盐生成均异常增加。
