气相色谱-质谱联用分析在有机酸尿症筛查与诊断中的应用  

Application of gas chromatography-mass spectrometry analysis in the screening and diagnosis of organic acidurias

作　　者：宋金青[1] 杨艳玲[1] 孙芳[1] 张月华[1] 包新华[1] 钱宁[1] 王兰凤[1] 秦炯[1] 吴希如[1] 

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《中国医刊》2006年第2期38-40,共3页Chinese Journal of Medicine

基　　金：卫生部属医疗机构临床学科重点项目资助(项目编号:2001-0912)

摘　　要：目的探讨气相色谱-质谱联用分析(GCMS)在有机酸尿症筛查与诊断中的应用方法及意义。对象和方法收集1998年1月至2005年9月近8年期间的4265例智力运动障碍、癫痫、呕吐、意识障碍等有机酸尿症高危患者尿液,萃取有机酸,应用ShimadzuGCMSQP2010分析仪、GCMSsolution软件工作站进行色谱和质谱分析,采用先天代谢异常筛查诊断软件对色谱和质谱图进行数据处理与化学诊断。结果4265例高危患者中共发现了153例(3.59%)有机酸尿症患者,其中甲基丙二酸尿症最多,为85例,占55.6%。戊二酸血症Ⅱ型19例(12.4%)。丙酸血症14例(9.2%)。多种羧化酶缺乏症12例(7.8%),其中生物素酶缺乏症7例。戊二酸尿症Ⅰ型、高草酸尿症各5例,氧合脯氨酸尿症、异戊酸尿症各3例,甲基巴豆酰辅酶A羧化酶缺乏症、甘油酸尿症、酮硫解酶缺乏症各2例,黑酸尿症1例。筛查中还发现了144例(3.38%)继发性有机酸代谢异常,经过血液氨基酸、脂肪酸、肉碱谱、基因分析进行了进一步病因分析。确诊后多数患者接受了相应饮食、药物与康复治疗,有不同程度改善。结论GCMS尿有机酸分析是有机酸尿症筛查与诊断的可靠方法。Objective To study the application of gas chromatography-mass spectrometry （GC-MS） in the screening and diagnosis of organic acidurias. Subjects and Methods From January 1998 to September 2005, 4265 urine samples from the patients with psychomotor deficits, seizures, vomiting and unconsciousness were collected. Their urine organic acids profiles were analyzed using Shimadzu GCMS-QP2010, GCMS solution and Inborn Errors of Metabolism Screening System software. Results One hundred and fifty three patients （ 3.59% ） with organic acidurias were detected. Among them, 85 （85/153, 55.6% ） were methylmalonic aciduria. 19 （ 12.4% ） were glutaric aciduria typeⅡ. 14 were propionic aciduria. 12 had multiple carboxylase deficiency. 5 had glutaric aciduria type Ⅰ 5 had hyperoxalic acidurla. 3 oxoprolinemia, 3 isovaleric aciduria, 2 methylcrotonyl CoA carboxylase deficiency, 2 glyceric aciduria, 2 ketothiolase deficiency and 1 alcaptonuria were confirmed, respectively. After diet, medicine and rehabilitation, clinical improvement were observed from some patients. Conclusion The method of urine organic acid analysis using GC-MS was estab- lished and applied successfully. GC-MS is a very useful method to the screening and diagnosis for organic acidurias.

关 键 词：气相色谱-质谱联用仪(GC-MS) 有机酸尿症 有机酸 筛查 

分 类 号：R752[医药卫生—皮肤病学与性病学] R596[医药卫生—临床医学]