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自从Tanaka使用气相色谱发现了首例异戊酸尿症以来,这一技术在有机酸遗传代谢病的研究和诊断中得到了广泛应用。通过分析尿、血以及羊水等体液中的代谢物组成,人们陆续发现了数十种有机酸遗传代谢病,其中近60种已经可以采用这一技术进行诊断。 鉴定体液中有机酸类代谢物最准确可靠的方法是采用气相色谱-质谱联用法。然而这需要昂贵的质谱仪。在没有这种大型仪器的情况下,单独使用气相色谱双柱保留指数法也可以获得可靠的结果。为了便于今后开展有机酸遗传代谢病的临床研究和诊断,本
Since Tanaka discovered the first case of isovaleric acid using gas chromatography, this technique has found widespread use in the research and diagnosis of organic acid metabolic diseases. By analyzing the metabolites in body fluids such as urine, blood and amniotic fluid, dozens of organic acid metabolic diseases have been discovered one after another, and nearly 60 of them have been used to diagnose this disease. The most accurate and reliable method for identifying organic acid metabolites in body fluids is by gas chromatography-mass spectrometry. However this requires an expensive mass spectrometer. In the absence of such large instrumentation, the GC double column retention index alone can yield reliable results. In order to facilitate the clinical research and diagnosis of organic acid genetic metabolic diseases in the future,