羊水中有机酸类代谢物的气相色谱-质谱研究

Study on the Acidic Metabolites in Amniotic Fluid by Combined Gas Chromatography and Mass Spectrometry

有机酸遗传代谢病是一类由于单基因或多基因变化导致的代谢障碍疾病。基因的变化通常表达为相应酶的缺失,严重影响人的智力发育。据watts等人的观察,1788例临床痴呆病患者中约有5％是因有机酸遗传代谢病造成的。虽然它的发病率不高,但由于目前对此病还缺乏有效的治疗方法。

Acidic metabolites in amniotic fluid from 19 women at a mean gestational age of 20 weeks have been investigated by combined gas chromatography and mass spectrometry. Organic acids in amniotic fluid were extracted by silicic acid column chromatography. 22 organic acids (Table 1 ) have been identified and quantified by GC and GC/MS as their trimethylsilyl derivatives. Besides the metabolites listed in Table 1, capillary gas chromatography and mass spectrometric analysis demonstrated the presence of 2-hydroxyisobutyric, 3-hydxoxyisobutyric and 2-hydroxyisovaleric acids.