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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。
Adrenoleukodystrophy is a hereditary metabolic disease caused by a peroxidase deficiency and its clinical symptoms are not sufficient for diagnosis. Plasma long chain fatty acids are identified as the major biochemical markers of adrenoleukodystrophy. In order to cooperate with the clinical examination, a method for the determination of long chain carbon fatty acid in plasma was established. The plasma was treated by direct transesterification and identified by GC-MS in plasma. Methyl behenate, The presence of n-behenic acid methyl ester, and then by gas chromatography determination of plasma n-methyl tricosanoate and n-behenic acid methyl ester, n-behenic acid methyl ester and n-behenic acid methyl ester peak Area ratio, 8 plasma samples were determined by the established method. The results showed that the plasma concentrations of n-methyl-2-methyltetracarboxylate and methyl nadalate (C 24: 0) / C 22: 0)), the ratio of methyl n-behenate to methyl n-docosanoate (C_ (26: 0) / C_ (22: 0)) was higher than normal.