Jellum E, Kvittingen E A, Thoresen O, Guldal G, Horn L, Seip R, Stokke O
Scand J Clin Lab Invest Suppl. 1986;184:11-20.
A multicomponent analytical system for diagnosis of human metabolic disorders is overviewed. After preliminary analysis of the urine with simple chemical tests and standard clinical chemistry methods, the samples undergo a variety of chromatographic separations. Paper chromatography and thin-layer chromatography determine carbohydrates and mucopolysaccharides. Amino acids are analysed by automatic ionexchange chromatography. Gas chromatography - mass spectrometry with computerized library search is used to separate and identify organic acids, and high performance liquid chromatography with computerized diodearray detector is used to analyse metabolites of nucleic acids and other non-volatile or labile constituents. The system, gradually developed during the past two decades, is routinely used to diagnose, via its detection of pathological metabolites, around 100 different metabolic disorders. The methods may also be used to monitor the efficacy of therapeutic treatment in some of the cases where this is possible.
本文概述了一种用于诊断人类代谢紊乱的多组分分析系统。先用简单化学测试和标准临床化学方法对尿液进行初步分析，然后对样本进行各种色谱分离。纸色谱法和薄层色谱法用于测定碳水化合物和黏多糖。氨基酸通过自动离子交换色谱法进行分析。配有计算机化库检索的气相色谱-质谱联用仪用于分离和鉴定有机酸，配有计算机化二极管阵列检测器的高效液相色谱仪用于分析核酸代谢物及其他非挥发性或不稳定成分。该系统在过去二十年中逐步发展起来，通过检测病理性代谢物，常规用于诊断约100种不同的代谢紊乱。在某些可行的情况下，这些方法还可用于监测治疗效果。
