多种羧化酶缺陷病患者尿液标志物的GC-MS分析

GC-MS analysis of urinary markers for patient with multiplecarboxylase deficiency

本文旨在探讨乳酸、3 羟基异戊酸、甲基枸橼酸和 3 甲基巴豆酰甘氨酸等多种羧化酶缺陷病 (multiplecarboxy lasedeficiency,MCD) 4个尿液标志物的气相色谱 质谱法定性和定量分析特征。结果显示 ,乳酸和 3 羟基异戊酸在总离子流图上有明显的信号 ,其绝对保留时间分别是 5 0 2和 6 1 9min ,相对保留时间分别为 0 4 0 3和 0 4 97,而其特征离子 (m z,TMS)分别为M 1 5 (2 1 9,2 )和M 1 5 (2 4 7,2 )。甲基枸橼酸 (双峰 )和 3 甲基巴豆酰甘氨酸的绝对保留时间分别是 1 0 83、1 0 87和 8 94min ,相对保留时间分别为 0 86 9、0 872和 0 71 7min ,特征离子 (m z ,TMS)分别为M 1 5 (4 79,4 )和M (2 2 9,1 ) ,以上两种物质的定性定量分析可借助提取离子色谱图进行。本文结果对于MCD的疗效监测 ,及其症前。

To explore the characteristics of qualitative and quantitative analysis by gas chromatography mass spectrometry (GC MS) with 4 urinary markers, i.e. lactate, 3 hydroxyisovalerate, 3 methylcrotonylglycine and methylcitrate, which are routinely used in the diagnosis of multiple carboxylase deficiency (MCD). 3 Hydroxyisovalerate and lactate weve sensitive signals in total ion currency (TIC) profile, with absolute retention time 5.02min and 6.19min, relative retention time 0.403 and 0.497,and characteristic ions were (m/z,TMS) M 15(219,2) and M 15(247,2) respectively. Methylcitrate (2 peaks) and 3 methylcrotonylglycine showed absolute retention time 10.83min,10.87min and 8.94min, relative retention time 0.869,0.872,and 0.717,and with characteristic ions (m/z,TMS) M 15(479,4), and M(229,1). The results provide valuable tool for the monitoring of curative effect and for the presymptomatic and prenatal diagnosis of MCD.