关键词: 串联质谱, 高危儿, 肉碱缺乏症, 酰基肉碱, 基因

Abstract: Objective To investigate the carnitine spectrum metabolism level of high-risk children of primary carnitine deficiency by using tandem mass spectrometry (MS/MS) in 2 493 patients.And to value tandem mass spectrometry application in diagnosis of primary carnitine deficiency. Methods 2 493 cases of high-risk children suspected genetic metabolic disease were selected from January 2013 to 2016 April in authors' hospital.Carnitine spectrum were detected by tandem mass spectrometry screening and confirmed by gene sequencing. Results 55 patients (2.21%) were positive for carnitine metabolism disorders;10 patients (0.4%) were diagnosed as primary carnitine deficiency.There were five types of pathogenic mutation sites. Conclusion The incidence of primary carnitine deficiency in high-risk children is higher and the type of genic mutation is different from that in other regions.Tandem mass spectrometry technology is helpful to the early diagnosis of this disease in high-risk children and provide a basis for clinical diagnosis and treatments.   

Key words: tandem mass spectrometry, high risk children, carnitine deficiency, acyl carnitine, gene