Enzyme Defect in a Case of Xanthinuria
Enzyme Defect in a Case of Xanthinuria
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DOI：
10.1038/201395a0
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发表时间：
1964-01
期刊：
影响因子：
64.8
通讯作者：
R. Watts;K. Engelman;J. Klinenberg;J. Seegmiller;A. Sjoerdsma
中科院分区：
文献类型：
--
作者：
R. Watts;K. Engelman;J. Klinenberg;J. Seegmiller;A. Sjoerdsma
黄嘌呤氧化酶催化次黄嘌呤氧化为黄嘌呤，黄嘌呤氧化为尿酸，这种酶存在于人的肝脏、小肠粘膜和牛奶中，尽管其活性水平似乎略低于动物。Dent和Philpot 2以及Dickinson和Smellie 3报告了一例黄嘌呤尿结石患者，尿羟嘌呤排泄增加，血液和尿液尿酸水平极低。他们认为，该患者要么不能将黄嘌呤氧化为尿酸，要么黄嘌呤不能被肾小管重吸收，或者这两种缺陷都存在。
THE enzyme xanthine oxidase which catalyses the oxidation of hypoxanthine to xanthine and of xanthine to uric acid is present in human liver, small-intestinal mucosa and milk1, although the levels of activity appear to be somewhat lower than in animals. Dent and Philpot2and Dickinson and Smellie3reported on a patient with xanthine urinary stones, increased urinary oxypurine excretion and very low blood and urine uric acid levels. They suggested that this patient was either unable to oxidize xanthine to uric acid or that there was a failure of xanthine reabsorption by the renal tubules, or that both these defects were present.