Gas Chromatograph—Mass Spectrometer—Computer System for Detection and Identification of Abnormal Metabolic Products in Physiological Fluids

Abstract

A gas chromatograph—mass spectrometer—computer system was developed to rapidly separate and identify metabolic products of low molecular weight in microliter quantities of physiological fluids. For sample preparation, the silyl derivative extraction method was used, in which extraction, derivative formation, and concentration are achieved in a single step, and components with widely different chemical structures can be analyzed in a single run. Gas-chromatographic peaks were identified by the computer output of high-resolution mass measurements or low-resolution fragmentation patterns. Application is illustrated by a case of inborn metabolic error. The system appears well suited for screening for metabolic disorders.