用于嘌呤和嘧啶代谢紊乱筛查的二维薄层色谱法。

Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism.

作者信息

van Gennip A H, van Noordenburg-Huistra D Y, de Bree P K, Wadman S K

出版信息

Clin Chim Acta. 1978 May 16;86(1):7-20. doi: 10.1016/0009-8981(78)90452-7.

Abstract

A method is presented for the two-dimensional thin-layer chromatographic screening of purines, pyrimidines and their nucleosides in the urine. Prior to chromatography, isolation of these substances from the urine is performed by anion-exchange column chromatography. Purines and pyramidines are quantitatively eluted with formic acid 0.01 M and 4 M respectively. The results of recovery and stability experiments are given. Normal excretory patterns are presented. Also results in patients with various diseases are shown: ornithine transcarbamylase deficiency, adenosine deaminase deficiency, purine nucleoside phosphorylase deficiency, adenine phosphoribosyltransferase deficiency, xanthine oxidase deficiency and hypoxanthine-guanine phosphoribosyltransferase deficiency. Finally the pattern of a patient on treatment with allopurinol is given.

摘要

本文介绍了一种用于尿液中嘌呤、嘧啶及其核苷二维薄层色谱筛查的方法。在进行色谱分析之前，通过阴离子交换柱色谱法从尿液中分离这些物质。嘌呤和嘧啶分别用0.01 M和4 M的甲酸定量洗脱。给出了回收率和稳定性实验结果。展示了正常排泄模式。还给出了患有各种疾病患者的结果：鸟氨酸转氨甲酰酶缺乏症、腺苷脱氨酶缺乏症、嘌呤核苷磷酸化酶缺乏症、腺嘌呤磷酸核糖转移酶缺乏症、黄嘌呤氧化酶缺乏症和次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。最后给出了一名接受别嘌呤醇治疗患者的模式。