采用高效液相色谱/串联质谱法分离和鉴定血浆短链酰基肉碱异构体用于脂肪酸氧化缺陷和有机酸血症的鉴别诊断。

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.

作者信息

Ferrer Isaac, Ruiz-Sala Pedro, Vicente Yolanda, Merinero Begoña, Pérez-Cerdá Celia, Ugarte Magdalena

机构信息

Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

出版信息

J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Dec 1;860(1):121-6. doi: 10.1016/j.jchromb.2007.10.018. Epub 2007 Oct 22.

DOI:10.1016/j.jchromb.2007.10.018

PMID:17988960

Abstract

This paper reports a new, high-performance liquid chromatography/tandem mass spectrometry method for the separation and identification of human plasma short-chain acylcarnitine isomers. This simple, rapid procedure involves the use of a single sample previously shown to contain elevated acylcarnitine concentrations by flow injection analysis, and can separate two C4, three C5, two C5:1 and four C5-OH acylcarnitine isomers, thus permitting the differential diagnosis of certain fatty acid oxidation defects and organic acidemias.

摘要

本文报道了一种用于分离和鉴定人血浆短链酰基肉碱异构体的新型高效液相色谱/串联质谱法。这种简单、快速的方法使用了一个先前通过流动注射分析显示酰基肉碱浓度升高的单一样本，能够分离两种C4、三种C5、两种C5:1和四种C5-OH酰基肉碱异构体，从而有助于对某些脂肪酸氧化缺陷和有机酸血症进行鉴别诊断。