衍生化电喷雾串联质谱法快速检测甲基丙二酸尿症  

Rapid Detection of Methylmalonic Acidemia by Derivation and Electrospray Tandem Mass Spectrometry

作　　者：孙萍[1] 梁琼麟[1] 王义明[1] 罗国安[1] 张霆[2] 王立文[2] 

机构地区：[1]清华大学生命科学与医学研究院化学生物学教育部重点实验室,北京100084 [2]首都儿科研究所,北京100020

出　　处：《高等学校化学学报》2005年第3期421-425,共5页Chemical Journal of Chinese Universities

基　　金：国家重点基础研究发展规划项目 (批准号 :2 0 0 1CB5 10 3 0 6)资助 .

摘　　要：甲基丙二酸尿症的主要标志物为甲基丙二酸 .采用正丁醇衍生化 ,以结合同位素化合物为内标 ,用电喷雾串联质谱快速、准确且选择性地定量检测了尿液中的甲基丙二酸 .同时定量检测了病人治疗过程中尿液的肌酐 ,应用甲基丙二酸与肌酐的比值对两例甲基丙二酸病人的治疗过程予以监控 .所建立的定量方法具有快速、准确和高选择性等特点 ,既可用于大规模和高通量的筛查 (2 min/样 ) ,又可用于病人治疗过程中的监控 .The main biomarker of Methylmalonic acidemia was known as methylmalonic acid. Therefore, a rapid, selective and accurate method is developed to determine methymalonic acid in urine by using electrospray tandem mass spectrometry with n-butyl ester derivation and stable isotope dilution. The concentration of creatinine in urine was also determined without derivation. With this quantitative method of c(MMA)/c(creatinine), the urines samples of two MMAemia patients were analyzed through the process of treatment. The result shows that it can be used not only for the screening of inborn errors of metabolism, but also in the treatment process of MMAuria patients.

关 键 词：甲基丙二酸尿症 衍生化 串联质谱 

分 类 号：O657[理学—分析化学]