甲基丙二酸血症患儿脑脊液酰基肉碱及有机酸分析  

Analysis of the levels of acylcarnitines and organic acids in cerebrospinal fluid of the patients with methylmalonic acidemia

作　　者：韩凤[1] 宋小青[2] 韩连书[1] 高晓岚[1] 王瑜[1] 李筱燕[1] 许浩[1] 季文君[1] 金晶[1] 顾学范[1] 

机构地区：[1]上海交通大学医学院附属新华医院上海市儿科医学研究所小儿内分泌遗传代谢病研究室,上海200092 [2]上海交通大学医学院附属新华医院儿内科,上海200092

出　　处：《中国实用儿科杂志》2013年第8期590-593,共4页Chinese Journal of Practical Pediatrics

基　　金：上海市科委重大课题[11dz1950300];"十二五"国家科技支撑计划项目"遗传代谢病筛查与诊治技术规范化研究"[2012BAI09B04]

摘　　要：目的检测甲基丙二酸血症(MMA)患儿脑脊液中丙酰肉碱(C3)和甲基丙二酸,探讨其在MMA诊断和脑损伤评估中的作用。方法检测2010—2012年上海交通大学医学院附属新华医院12例MMA患儿(MMA组)和15例非MMA患儿(对照组)脑脊液及血中C3、游离肉碱(C0)、C3与乙酰肉碱(C2)比值(C3/C2)以及脑脊液及尿中甲基丙二酸。分析脑脊液C3、甲基丙二酸与血C3、尿甲基丙二酸的相关性。酰基肉碱采用串联质谱检测,甲基丙二酸采用气相色谱质谱检测。结果MMA组脑脊液C3(5.74μmol/L)及C3/C2(1.47)高于对照组,差异有统计学意义(P<0.05);血C3(12.80μmol/L)及C3/C2(0.88)高于对照组,差异有统计学意义(P<0.05)。MMA组脑脊液C3和C3/C2与血中检测值无相关性。MMA组脑脊液及尿中甲基丙二酸中位值均高于对照组,差异有统计学意义(P<0.05)。MMA组脑脊液甲基丙二酸与尿中检测值呈正相关(r=0.81,P<0.05)。结论血C3检测不能充分反映MMA患儿脑脊液中C3水平,结合脑脊液中C3、C3/C2及甲基丙二酸分析有助于对脑损伤程度进行判断。Objective To analyze propionylcarnitine and methylmalonic acid levels in cerebrospinal fluid （CSF）of the patients with methylmalonic acidemia （MMA）, and to explore their roles in the methylmalonic acidemia diagnosis and brain damage assessment. Methods Twelve patients with MMA and 15 non-MMA patients（control group）were includ- ed. We detected the levels of propionylcarnitine （C3）, free carnitine （C0）, C3/acetylcarnitine （C2） in CSF and blood, and the levels of methylmalonic acid in CSF and urine. We also analyzed the correlation of propionylcarnitine and methylma- lonic acid in CSF with blood propionylcarnitine and urine methylmalonic acid levels. The levels of acylcarnitines were tested with tandem mass spectrometry. The level of methylmalonic acid was tested with gas chromatography mass spec- trometry. Results The levels of C3 （5.74 μmol/L）and C3/C2 （1.47）in CSF of MMA patients were higher than that of control group, the differences being statistically significant （P 〈 0.05）. The levels of C3 （12.80 μmol/L）and C3/C2 （0.88） in blood of MMA patients were higher than that of control group, the differences being statistically significant （P 〈 0.05）. But there were no correlations of the levels of C3 and C3/C2 in CSF with that in blood of MMA patients. The median lev- els of methylmalonic acid in urine and CSF were both higher than control group （P 〈 0.05）. There was a positive correla- tion between the methylmalonic acid in CSF and urine of MMA patients （P 〈 0.05）. Conclusion Only detecting the blood propionylcarnitine does not adequately reflect the levels in the cerebrospinal fluid of patients with methylmalonic acidemia; combining the levels of C3, C3/C2 and methylmalonic acid in CSF may be helpful to estimate the degree of brain injury.

关 键 词：甲基丙二酸血症 甲基丙二酸 丙酰肉碱 脑脊液 串联质谱 

分 类 号：R72[医药卫生—儿科]