黄嘌呤尿1例:吡嗪酰胺和别嘌呤醇代谢的研究。

T Yamamoto, K Kario, M Suda, Y Moriwaki, S Takahashi, K Higashino
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引用次数: 13

摘要

一位74岁女性,通过测定血浆尿酸水平、尿嘌呤碱基和十二指肠黏膜黄嘌呤氧化酶活性,诊断为黄嘌呤尿。对其家族尿嘌呤碱基的测定表明,其弟弟的尿氧嘌呤排泄量略有增加,提示其为杂合子。吡嗪酰胺负载试验和别嘌呤醇负载试验表明,她既不能将吡嗪酸代谢为5-羟吡嗪酸,也不能将别嘌呤醇代谢为氧嘌呤醇,但吡嗪酰胺有轻微代谢为5-羟吡嗪酰胺。这表明她属于不能将吡嗪酰胺代谢为5-羟吡嗪酰胺,不能将吡嗪酸代谢为5-羟吡嗪酸,不能将别嘌呤醇代谢为氧嘌呤醇的亚群。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of xanthinuria: a study on the metabolism of pyrazinamide and allopurinol.

A 74-year-old female was diagnosed as having xanthinuria by measurement of the uric acid level in plasma, purine bases in urine and activity of xanthine oxidase in the duodenal mucosa. The determination of the urinary excretion of purine bases in her family demonstrated a slightly increased urinary excretion of oxypurines in her younger brother, suggesting that he was a heterozygote. The pyrazinamide-loading test and allopurinol-loading test demonstrated that she could neither metabolize pyrazinoic acid into 5-hydroxypyrazinoic acid nor allopurinol into oxypurinol, although there was a slight metabolizing of prazinamide into 5-hydroxypyrazinamide. This suggested that she belonged to the subgroup which can neither metabolize pyrazinamide into 5-hydroxypyrazinamide, pyrazinoic acid into 5-hydroxypyrazinoic acid nor allopurinol into oxypurinol.

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