通过尿咪唑的薄层色谱法和嘌呤的自动阳离子交换柱色谱法诊断遗传性腺苷琥珀酸酶缺乏症。

Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.

作者信息

de Bree P K, Wadman S K, Duran M, Fabery de Jonge H

出版信息

Clin Chim Acta. 1986 May 15;156(3):279-87. doi: 10.1016/0009-8981(86)90071-9.

PMID:3719985

Abstract

Patients with inherited adenylosuccinase deficiency excrete large quantities of succinyloaminoimidazolecarboxamide riboside (SAICAR) and succinyloadenosine (SAdo). A two-dimensional thin-layer chromatography method for the detection of SAICAR is described. The method consists of isolation of imidazoles with a cation exchange resin; TLC on cellulose plates, solvent I, isopropanol-ammonia 10% (4:1) and II, butanol-acetic acid-water (4:1:1); detection with Pauly reagent. SAICAR gives rise to an isolated spot with a characteristic bluish color. Also a simple one-dimensional thin-layer chromatography method using urine without any pretreatment for screening of high risk populations is given. Four new cases could be diagnosed. Clinical and chemical data, including concentrations of SAICAR and SAdo in urine, plasma and cerebrospinal fluid, determined by cation exchange column chromatography, are presented.

摘要

患有遗传性腺苷琥珀酸酶缺乏症的患者会大量排泄琥珀酰氨基咪唑甲酰胺核糖苷（SAICAR）和琥珀酰腺苷（SAdo）。本文描述了一种用于检测SAICAR的二维薄层色谱法。该方法包括用阳离子交换树脂分离咪唑；在纤维素板上进行薄层色谱，溶剂I为异丙醇 - 10%氨水（4:1），溶剂II为丁醇 - 乙酸 - 水（4:1:1）；用保利试剂检测。SAICAR会产生一个具有特征性蓝色的孤立斑点。还给出了一种简单的一维薄层色谱法，该方法使用未经任何预处理的尿液来筛查高危人群。可诊断出4例新病例。本文还呈现了通过阳离子交换柱色谱法测定的临床和化学数据，包括尿液、血浆和脑脊液中SAICAR和SAdo的浓度。