| GC/MS和ESI/MS/MS同位素内标法检测甲基丙二酸血症 |
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| 引用本文： | 赵基源,王义明,罗国安,张霆,吴建新,王立文.GC/MS和ESI/MS/MS同位素内标法检测甲基丙二酸血症[J].高等学校化学学报,2003,24(8):1368-1372. |
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| 作者姓名： | 赵基源 王义明 罗国安 张霆 吴建新 王立文 |
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| 作者单位： | 1. 清华大学生命科学与工程研究院,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规划项目 (批准号 :2 0 0 1CB5 10 30 6 )资助 |
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| 摘 要： | 以甲基丙二酸血症为对象,分别用GC/MS和ESI/MS/MS方法对该疾病进行了定性和定量检测.通过对样品前处理和分离条件的改善,对疾病的标识化合物之一甲基丙二酸进行了定量测定,其稳定性、精密度和回收率结果很好.同时比较了GC/MS和ESI/MS/MS两种方法的特点,发现两种方法的结合不仅可满足新生儿代谢疾病筛查的要求,同时还可对高危人群进行诊断.
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| 关 键 词： | GC/MS ESI/MS/MS 甲基丙二酸血症 甲基丙二酸 甲基柠檬酸 |
| 文章编号： | 0251-0790(2003)08-1368-05 |
| 收稿时间： | 2002-11-11 |
Studies on GC/MS and ESI/MS/MS Screening of MMAUria with Stable Isotope Labeling Method |
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| ZHAO Ji-Yuan ,WANG Yi-Ming ,LUO Guo-An ,ZHANG Ting ,WU Jian-Xin ,WANG Li-Wen.Studies on GC/MS and ESI/MS/MS Screening of MMAUria with Stable Isotope Labeling Method[J].Chemical Research In Chinese Universities,2003,24(8):1368-1372. |
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| Authors: | ZHAO Ji-Yuan WANG Yi-Ming LUO Guo-An ZHANG Ting WU Jian-Xin WANG Li-Wen |
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| Institution: | ZHAO Ji-Yuan 1,WANG Yi-Ming 1,LUO Guo-An 1 *,ZHANG Ting 2,WU Jian-Xin 2,WANG Li-Wen 2 |
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| Abstract: | Early diagnosis of inborn errors of metabolism(IEM) is a challenging and undeveloped area in China. As one of the diseases with most frequency, methylmalonic aciduria(MMAUria) is studied by using GC/MS and ESI/MS/MS method. Information of almost all urinary metabolites can be obtained by GC/MS using urease pretreatment and stable isotpe labeling. We also develop a way to analyze a urine sample in 2 minutes by ESI/MS/MS. Both the two methods have a good recovery. The combination of the two methods can not only be used for high-risk screening, but also for newborn screening. |
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| Keywords: | GC/MS ESI/MS/MS MMAUria Methylmalonic acid Methylcitric acid |
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