使用高效液相色谱法的嘌呤和嘧啶代谢紊乱自动筛查系统

Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.

作者信息

Sumi S, Kidouchi K, Ohba S, Wada Y

机构信息

Department of Pediatrics, Nagoya City Child Welfare Center, Japan.

出版信息

J Chromatogr B Biomed Appl. 1995 Oct 20;672(2):233-9. doi: 10.1016/0378-4347(95)00228-b.

DOI:10.1016/0378-4347(95)00228-b

PMID:8581129

Abstract

An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC) with column switching is described. The system consists of a reversed-phase column, a cation-exchange column, a column switch, four sets of ultraviolet absorbance detectors, a microcomputer and other conventional equipment. As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency.

摘要

描述了一种使用带柱切换的高效液相色谱（HPLC）的嘌呤和嘧啶代谢紊乱自动筛查系统。该系统由反相柱、阳离子交换柱、柱切换器、四套紫外吸收检测器、微型计算机和其他常规设备组成。由于该系统能够同时测定尿乳清酸、尿嘧啶、二氢尿嘧啶、假尿嘧啶、黄嘌呤、2,8 - 二羟基腺嘌呤和琥珀酰腺苷，它为检测乳清酸尿症、二氢嘧啶脱氢酶缺乏症、二氢嘧啶尿症、黄嘌呤尿症、腺嘌呤磷酸核糖转移酶缺乏症和腺苷琥珀酸酶缺乏症提供了一种有用的方法。