| 衍生化电喷雾串联质谱法快速检测甲基丙二酸尿症 |
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| 引用本文： | 孙萍,梁琼麟,王义明,罗国安,张霆,王立文.衍生化电喷雾串联质谱法快速检测甲基丙二酸尿症[J].高等学校化学学报,2005,26(3):421-425. |
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| 作者姓名： | 孙萍 梁琼麟 王义明 罗国安 张霆 王立文 |
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| 作者单位： | 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 |
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| 基金项目： | 国家重点基础研究发展计划(973计划) |
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| 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(2min/样),又可用于病人治疗过程中的监控.
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| 关 键 词： | 甲基丙二酸尿症 衍生化 串联质谱 |
| 文章编号： | 0251-0790(2005)03-0421-05 |
| 收稿时间： | 2004-06-16 |
Rapid Detection of Methylmalonic Acidemia by Derivation and Electrospray Tandem Mass Spectrometry |
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| SUN Ping,LIANG Qiong-Lin,WANG Yi-Ming,LUO Guo-An,ZHANG Ting,WANG Li-Wen.Rapid Detection of Methylmalonic Acidemia by Derivation and Electrospray Tandem Mass Spectrometry[J].Chemical Research In Chinese Universities,2005,26(3):421-425. |
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| Authors: | SUN Ping LIANG Qiong-Lin WANG Yi-Ming LUO Guo-An ZHANG Ting WANG Li-Wen |
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| Institution: | 1. Key Lab of Chemical Biology of Ministry of Education, Institute of Biomedicine, Tsinghua University, Beijing 100084, China;
2. Capital Institute of Pediatrics, Beijing 100020, China |
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| Abstract: | 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. |
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| Keywords: | Methylmalonic acidemia Derivation Tandem mass spectrometry |
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