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本文介绍了遗传性代谢缺陷病(Inborn errors of metabolism IEM)的发病机理及其特点 并阐述了在早期对它进行检测的必要性。文章简要回顾了对IEM进行检测尤其是化学检测的发展历程。着重介绍了目前世界各国采用较多检测IEM的气相色谱-质谱联用(GC-MS)、串联质谱(Tandem-Mass)、毛细管电泳(CE)、高效液相色谱(HPLC)、核磁共振(NMR)、红外光谱(IR)等各种化学检测方法 比较了它们的特点和优缺点。
This article describes the pathogenesis and characteristics of Inborn errors of metabolism IEM and explicates the need for its early detection. The article briefly reviews the development of IEM, especially chemical detection. In this paper, the methods of gas chromatography-mass spectrometry (GC-MS), Tandem-Mass, capillary electrophoresis (CE), high performance liquid chromatography (HPLC) and nuclear magnetic resonance ), Infrared spectroscopy (IR) and other chemical detection methods to compare their characteristics and advantages and disadvantages.