通过尿咪唑的二维薄层色谱法检测遗传性腺苷琥珀酸酶缺乏症

Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.

作者信息

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

出版信息

Adv Exp Med Biol. 1986;195 Pt A:21-5. doi: 10.1007/978-1-4684-5104-7_3.

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 1: isolation of imidazoles with a cation exchange resin; 2: 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 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 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：1. 用阳离子交换树脂分离咪唑；2. 在纤维素板上进行薄层色谱，溶剂I：异丙醇-10%氨水（4:1），溶剂II：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。本文还给出了一种用于筛查高危人群的简单一维薄层色谱法。确诊了4例新病例。文中呈现了通过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。