关键词: 遗传代谢病, 串联质谱, 气相色谱质谱, 基因检测

Abstract:

Inherited metabolic diseases among rare diseases, also known as inborn errors of metabolism, refer to the enzymes, receptors, and cell membrane dysfunctions involved in and caused by genetic defects. These diseases lead to the blockage of metabolic pathways, and an accumulation of intermediate, bypass products, or a lack of terminal products, resulting in a variety of clinical symptoms. In recent years, the advances in detection techniques have enabled a larger number of patients to be diagnosed and treated timelier, shortening the time from disease onset to treatment and improving the quality of outcomes. This article focuses on fluorescence immunoassay techniques, tandem mass spectrometry, gas chromatography-mass spectrometry, gene sequencing, chromosome detection techniques and options of techniques above for inherited metabolic diseases to improve clinicians' understanding.

Key words: inherited metabolic disease, tandem mass spectrometry, gas chromatography-mass spectrometry, gene detection