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

摘要： 目的 通过运用串联质谱技术检测2 493例高危儿患者的肉碱谱代谢水平,了解本区域高危儿原发性肉碱缺乏群体的发生情况,及其基因突变表达方式以及串联质谱技术的应用价值。方法 选取2013年1月-2016年4月本院住院及门诊疑似遗传代谢疾病高危患儿共2 493例,运用串联质谱技术筛查酰基肉碱谱水平,经基因测序确诊,初步了解本地区高危儿肉碱缺乏症发病情况,并进行随访治疗。结果 在2 493例高危儿的检测结果中,肉碱代谢障碍初筛阳性为55例,占2.21%;原发性肉碱缺乏症确诊例数为10例为0.4%。致病突变位点存在五种类型。结论 本区域高危儿群体原发性肉碱缺乏症所占遗传代谢疾病比率较高,基因突变类型与其他地区存在差别。在诊疗该疾病过程中,运用串联质谱技术对该群体进行早期筛查可以为临床提供有力依据和方向。

关键词: 串联质谱, 高危儿, 肉碱缺乏症, 酰基肉碱, 基因