Complete deficiency of adenine phosphoribosyltransferase. Report of a family.
Complete deficiency of adenine phosphoribosyltransferase. Report of a family.
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腺嘌呤磷酸核糖转移酶完全缺乏。
DOI：
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发表时间：
1977
影响因子：
158.5
通讯作者：
J. Cameron
中科院分区：
文献类型：
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作者：
K. V. Van Acker;H. Simmonds;C. Potter;J. Cameron
我们研究了1例排石2，8-二羟基-9的男性纯合子儿童家系中完全性腺嘌呤磷酸核糖转移酶缺乏症的临床和生化表现。先证者及其临床正常兄弟的尿液中出现异常数量的腺嘌呤、8-羟基腺嘌呤和2，8-二羟基腺嘌呤(占总嘌呤代谢物的25%)，但在杂合子或对照组中没有。在两个纯合子中，红细胞腺嘌呤磷酸核糖转移酶活性都不到正常的1%，而在6个杂合子中，变化在正常的20%到57%之间。杂合子既没有高尿酸血症，也没有痛风。先证者用别嘌醇和低嘌呤饮食治疗可阻止结石形成。此外，2，8-二羟基腺嘌呤的排泄量减少。这是一种常染色体隐性遗传方式，在表型中有可变表达。纯合子可通过尿腺嘌呤水平升高或红细胞腺嘌呤磷酸核糖转移酶活性缺失(或两者兼而有之)来检测。
We studied the clinical and biochemical manifestations of complete adenine phosphoribosyltransferase deficiency in the kindred of a male homozygous child excreting stones of 2,8-dihydroxyade-nine. Abnormal amounts of adenine, 8-hydroxyade-nine and 2,8-dihydroxyadenine (25 per cent of total purine metabolites) appeared in the urine of the propositus and his clinically normal brother, but not in heterozygotes or a control. Adenine phosphoribosyl-transferase activity in erythrocytes was less than 1 per cent of normal in both homozygotes and varied from 20 to 57 per cent of normal in six heterozygotes. Heterozygotes exhibited neither hyperuricemia nor gout. Treatment of the propositus with allopurinol and a low purine diet stopped stone formation. In addition, excretion of 2,8-dihydroxyadenine decreased. An autosomal recessive mode of inheritance with variable expression in the phenotype is indicated. Homozygotes may be detected by their raised urinary adenine levels or absence of detectable erythrocyte adenine phosphoribosyltransferase activity (or both).