Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism
复制标题
DOI：
10.1007/s10545-005-0233-4
复制
发表时间：
2005-12-01
影响因子：
4.2
通讯作者：
Verhoeven, NM
中科院分区：
文献类型：
--
作者：
Wamelink, MMC;Smith, DEC;Verhoeven, NM
迄今为止，已知有几种先天性代谢缺陷，体液中多元醇浓度异常。这些缺陷中的大多数可以通过评估尿中多元醇的浓度来诊断。我们提出了两种方法，使用串联质谱筛选影响多元醇代谢的先天性错误。通过混合床离子交换树脂对补充有内标物（[C-13（4）]山梨醇、[C-13（2）]阿糖醇和[H-2（3）]山梨醇）的尿样进行脱盐。通过两个不同的柱实现分离。使用Prevail Carbohydrate ES 54柱不能分离糖异构体（方法1），而使用另一柱（Aminex HPX-87 C）实现异构体的分离（方法2）。多反应监测多元醇检测是通过串联质谱与电子离子喷雾源在负模式下运行。确立了尿液中多元醇（木糖醇、苏糖醇、阿拉伯糖醇、核糖醇、木糖醇、半乳糖醇、甘露醇、山梨醇、景天庚糖醇和鳄梨糖醇）的与生物学相关的参考范围。在转醛醇酶缺乏症、核糖-5-磷酸异构酶缺乏症和典型半乳糖血症患者中观察到的异常多元醇浓度证明了该方法的适用性。本文介绍了两种尿中多元醇的液相色谱-串联质谱分析方法。方法1是一种快速筛选方法，可对总异构体进行定量，方法2是一种更具选择性的方法，可对多元醇进行单独定量。两种方法均可用于诊断影响多元醇代谢的先天性代谢缺陷。
Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date. Most of these defects can be diagnosed by the assessment of urinary concentrations of polyols. We present two methods using tandem mass spectrometry for screening for inborn errors affecting polyol metabolism. Urine samples supplemented with internal standards ([C-13(4)]erythritol, [C-13(2)]arabitol and [H-2(3)]sorbitol) were desalted by a mixed-bed ion-exchange resin. Separation was achieved by two different columns. Sugar isomers could not be separated using a Prevail Carbohydrate ES 54 column (method 1), whereas with the other column (Aminex HPX-87C) separation of the isomers was achieved (method 2). Multiple reaction monitoring polyol detection was achieved by tandem mass spectrometry with an electron ion-spray source operating in the negative mode. Age-related reference ranges of polyols (erythritol, treitol, arabitol, ribitol, xylitol, galactitol, mannitol, sorbitol, sedoheptitol and perseitol) in urine were established. The applicability of the method was demonstrated by the abnormal polyol concentrations observed in patients with transaldolase deficiency, ribose-5-phosphate isomerase deficiency and classical galactosaemia. This paper describes two methods for the analysis of urinary polyols by liquid chromatography-tandem mass spectrometry. Method 1 is a fast screening method with the quantification of total isomers and method 2 is a more selective method with the separate quantification of the polyols. Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism.