摘要
肾上腺白质营养不良症是由过氧化体酶缺陷引起的遗传性代谢病，其临床症状不足以确诊。血浆中长碳链脂肪酸是鉴定肾上腺白质营养不良症的主要生化指标。为配合临床检验，建立了血浆中长碳链脂肪酸的测定方法，将血浆用直接酯交换法处理，用气相色谱质谱联用确证血浆中正二十二酸甲酯、正二十四酸甲酯和正二十六酸甲酯的存在，再用气相色谱法测定血浆中正二十四酸甲酯与正二十二酸甲酯、正二十六酸甲酯与正二十二酸甲酯的峰面积比值，应用建立的方法测定了８份血浆样品，结果表明肾上腺白质营养不良症患者血浆中正二十四酸甲酯与正二十二酸甲酯（Ｃ＿（２４：０）／Ｃ＿（２２：０））、正二十六酸甲酯与正二十二酸甲酯（Ｃ＿（２６：０）／Ｃ＿（２２：０））的比值比正常值高。
drenoleukodystrophy,caused by the lack of peroxidases,is difficult to be identified by the clinical syndrome。The determination of very long chain fatty acids in plasma is a very important method to for its identification,In this paper the authors report a method to determine docosanoic acid methyl ester(C_(22:0)),ligoceric acid methyl ester(C_(24:0))and hexacosanoic acid methy ester (C_(26:0))in plasma, After a direct transesterification。They are identified by GC/MS.The ratioes of C_(24:0) to C_(22:0)and C_(26:0) to C_(22:0) in eight plasma samples are determined by GC;one ALD patient has the higher ratioes of C_(24:0) to C_(22:0)and C_(26:0)to C_(22:0).
关键词
肾上腺皮质
营养不良
脂肪酸类
气相色谱
Adrenoleukodystrophy Fatty acids Gas chromatography mass spectroscopy
