新生儿串联质谱遗传代谢病筛查结果判读

Interpretation of the expanded newborn screening results for inborn errors of metabolism by tandem mass spectro-metry

遗传代谢病是由于基因缺陷导致体内某些物质代谢障碍,病种繁多,可累及多系统,临床表现无特异性。如未早期诊断和干预,总体预后差。串联质谱可检测血中的氨基酸和肉碱,是诊断氨基酸、有机酸、脂肪酸代谢病的有效手段,近年来被越来越广泛地应用于新生儿疾病筛查,大大有利于遗传代谢病的早期诊断。文章对新生儿串联质谱遗传代谢病筛查结果的判读进行介绍。

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.