关键词: 串联质谱, 新生儿疾病筛查, 遗传代谢病

Abstract: The inborn errors of metabolism are a group of disorders caused by genetic defects that result in impaired metabolism of certain substances，with a complex spectrum of diseases and non-specific clinical manifestations.Without early diagnosis and intervention，the overall prognosis is poor.Tandem mass spectrometry can detect the levels of amino acids and carnitine，which is an effective means to diagnose amino acids，organic acid and fatty acids metabolic diseases.It has been increasingly used in the newborn screening in recent years，greatly facilitating the early diagnosis of genetic metabolic diseases.The present article describes the interpretation of the results of the tandem mass spectrometry in expanded newborn screening for inborn errors of metabolism.

Key words: tandem mass spectrometry, newborn screening, inborn errors of meta-bolism