高等学校化学学报

高等学校化学学报 ›› 2003, Vol. 24 ›› Issue (8): 1368.

• 论文 • 上一篇    下一篇

GC/MS和ESI/MS/MS同位素内标法检测甲基丙二酸血症

赵基源1, 王义明1, 罗国安1, 张霆2, 吴建新2, 王立文2   

  1. 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
  • 收稿日期:2002-11-11 出版日期:2003-08-24 发布日期:2003-08-24
  • 通讯作者: 罗国安(1946年出生),男,教授,博士生导师,从事生命分析化学方面的研究.E-mail:guoanluo@tsinghua.edu.cn E-mail:guoanluo@tsinghua.edu.cn
  • 基金资助:

    国家重点基础研究发展规划项目(批准号:2001CB510306)资助

Studies on GC/MS and ESI/MS/MS Screening of MMAUria with Stable Isotope Labeling Method

ZHAO Ji-Yuan1, WANG Yi-Ming1, LUO Guo-An1, ZHANG Ting2, WU Jian-Xin2, WANG Li-Wen2   

  1. 1. Institute of Life Science and Engineering, Tsinghua University, Beijing 100084, China;
    2. CapitaLInstitute of Pediatrics, Beijng 100020, China
  • Received:2002-11-11 Online:2003-08-24 Published:2003-08-24

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被引次数

13

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.

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

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/MSand ESI/MS/MSmethod.Information of almost all urinary metabolites can be obtained by GC/MSusing 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.

Key words: GC/MS, ESI/MS/MS, MMAUria, Methylmalonic acid, Methylcitric acid

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