串联质谱技术在脂肪酸氧化代谢病诊断中的应用研究  

Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders

作　　者：韩连书[1] 叶军[1] 邱文娟[1] 高晓岚[1] 王瑜[1] 张拥军[1] 顾学范[1] 

机构地区：[1]上海交通大学医学院附属新华医院,上海市儿科医学研究所,小儿内分泌、遗传代谢病研究室,200092

出　　处：《中华医学遗传学杂志》2007年第6期692-695,共4页Chinese Journal of Medical Genetics

基　　金：上海市科委科研计划项目（05JC14041）;上海市重点学科建设项目（T0204）

摘　　要：目的探讨利用串联质谱技术检测干血滤纸片中酰基肉碱水平,诊断脂肪酸氧化代谢病。方法对象为2941例临床遗传性代谢病高危儿童,利用串联质谱技术检测患儿干血滤纸片中酰基肉碱水平,结合临床资料和常规生化结果,进行脂肪酸氧化代谢病诊断。结果诊断了14例脂肪酸氧化代谢病（0.5%）,其中肉碱棕榈酰转移酶Ⅰ缺乏症1例,肉碱棕榈酰转移酶Ⅱ缺乏症1例,短链酰基辅酶A脱氢酶缺乏症1例,中链酰基辅酶A脱氢酶缺乏症7例,极长链酰基辅酶A脱氢酶缺乏症2例,多种酰基辅酶A脱氢酶缺乏症2例。结论通过串联质谱技术检测干血滤纸片中酰基肉碱水平,可对部分脂肪酸氧化代谢病进行诊断。Objective To screen and diagnoze fatty acid oxidation disorders （FAOD） in high risk children with inborn error of metabohsm using tandem mass spectrometry. Methods The study group consisting of 2941 high risk cases of suspected inborn error of metabolism was tested. The acylcamitines in the dry blood filter papers of patients were tested by tandem mass spectrometry. The diagnosis of FAOD was according to the levels of the acylcamitines, the clinical symptoms, and other biochemistry study. Results Fourteen patients were diagnosed as FAOD. These patients included one carnitine palmitoyltransferase deficiency Ⅰ , one carnitine palmitoyhransferase deficiency Ⅱ , one short-chain acyl- CoA dehydrogenase deficiency, seven medium-chain acyl-CoA dehydrogenase deficiency, two very long-chain acyl-CoA dehydrogenase deficiency, and two multiple acyl-CoA dehydrogenase deficiency. Conclusion FAOD are not rare in China. Analysis of acylcamitines levels tested by tandem mass spectrometry is helpful to diagnose FAOD.

关 键 词：串联质谱 脂肪酸氧化代谢病 酰基肉碱 遗传性代谢病 

分 类 号：R686[医药卫生—骨科学]