罕见病中的遗传代谢病是由于机体代谢过程中基因变异引起相关酶活性降低或缺乏导致底物蓄积及产物减少，引起机体生化代谢紊乱而产生一系列临床症状的一类疾病。近年来，关于遗传代谢病筛查检测技术不断更新，越来越多的遗传代谢病患者得到确诊和及时治疗，缩短了发病到治疗的时间，提高了治疗效果。文章主要介绍荧光免疫技术、串联质谱技术、气相色谱质谱技术、基因测序技术、染色体检测技术及应用选择，以提高临床医师对这些技术的了解。

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.