血浆总同型半胱氨酸测定在智力低下等神经精神异常病因调查中的应用  

Determination of plasma total homocysteine in patients with mental retardation or other neuropsychological abnormality

作　　者：Sayami Sujan 张尧[1] 杨艳玲[1] 魏晓琼[1] 江剑辉[2] 宋金青[1] 刘平[1] 燕容[1] 东锦华[1] 田熠华[3] 王兰凤[1] 姜玉武[1] 秦炯[1] 吴希如[1] 

机构地区：[1]北京大学第一医院,北京100034 [2]广东省广州市妇婴医院,广东广州510180 [3]北京大学生育健康研究所,北京100086

出　　处：《临床儿科杂志》2008年第12期1013-1015,1020,共4页Journal of Clinical Pediatrics

基　　金：国家自然科学基金面上项目(No.30471832);十一五国家科技支撑计划项目(No.2006BAI05A07)

摘　　要：目的调查原因不明的神经精神异常及甲基丙二酸尿症患儿中同型半胱氨酸血症的发生情况,探讨荧光偏振免疫测定法进行血浆或血清总同型半胱氨酸测定的应用价值。方法对2000年1月至2007年12月因原因不明的智力低下、运动障碍、癫疒间、头痛等多种神经系统异常患儿799例,甲基丙二酸尿症126例患儿,采用荧光偏振免疫测定法检测血液总同型半胱氨酸,气相色谱质谱联用分析测定尿液有机酸,液相串联质谱法进行血液氨基酸、酯酰肉碱谱分析。结果925例高危患儿中共发现同型半胱氨酸血症128例(13.84%)。799例原因不明的神经系统疾病患儿中同型半胱氨酸血症27例(3.38%),血液丙酰肉碱及游离氨基酸浓度正常。126例甲基丙二酸尿症患儿中合并同型半胱氨酸血症101例(80.16%),血液丙酰肉碱浓度增高。结论甲基丙二酸尿症合并同型半胱氨酸血症是甲基丙二酸尿症的主要临床表型,为鉴别诊断、正确治疗,应及早进行血液总同型半胱氨酸测定。应用荧光偏振免疫测定法检测血清/血浆总同型半胱氨酸,是同型半胱氨酸血症高危筛查的可靠方法。Objectives To investigate the prevalence of homocysteinemia in patients with neurological defects of unknown origin and patients with methylmalonic aciduria, and explore the application of fluorescence polarization immunoassay in screening patients with high risk of homocysteinemia. Methods Nine hundred and twenty-five patients （586 male and 339 female, aged from 3 days to 18 years） of 29 provinces of China's Mainland were studied from Jan 2000 to Dec 2007. Among them, 799 were with mental retardation, movement disorder, seizures, headache or other nervous system symptoms, and 126 were with methylmalonic aciduria. The urine organic acids were analyzed with gas chromatography and mass spectrometry （GCMS） . Serum or plasma total homocysteine were determined with fluorescence polarization immunoassay method. Blood amino acids and acylcarnitine profiles were analyzed with liquid chromatography tandem mass （LC-MSMS） . Results One hundred and twenty eight patients （13.84%） were detected with homocysteinemia. Among 799 patients with neurological defects of unknown origin, 27 （3.38%） were found to have homocysteinemia, while their blood acylcarnitines and amino acids profiles were normal. 101 （80.16%） of the 126 patients with methylmalonic aciduria also had homocysteinemia, and the level of blood acylcarnitines were increased. Conclusions The common type of methylmalonic aciduria was found to be combined with homocysteinemia. Blood total homocysteine determination should be performed as early as possible for differential diagnosis and proper treatment of homocysteinemia. Blood total homocysteine determination by fluorescence polarization immunoassay is a reliable method for diagnosis of homocysteinemia.

关 键 词：智力低下 同型半胱氨酸血症 甲基丙二酸尿症 丙酰肉碱 

分 类 号：R725.8[医药卫生—儿科]