GC/MS和ESI/MS/MS同位素内标法检测甲基丙二酸血症  

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

作　　者：赵基源[1] 王义明[1] 罗国安[1] 张霆[2] 吴建新[2] 王立文[2] 

机构地区：[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

出　　处：《高等学校化学学报》2003年第8期1368-1372,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 30 6 )资助

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 .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.

关 键 词：GC/MS ESI/MS/MS 同位素内标法 检测 甲基丙二酸血症 甲基丙二酸 甲基柠檬酸 尿检 遗传性代谢缺陷病 

分 类 号：R589[医药卫生—内分泌] R446.12[医药卫生—内科学]