Screening for Metabolic Disorders Using Gas-Liquid Chromatography, Mass Spectrometry, and Computer Technique

Abstract

A system for multicomponent analyses of biological materials, using gas-liquid chromatography (GLC) for separation purpose, mass spectrometry for identification and structure studies, and computer technique for data handling, is described. Various extraction steps, hydrolysis and methods of derivative formation have been assembled into 8 different GLC-systems. Identification of the GLC-peaks is done by computer matching of unknown mass spectra against a library file of reference spectra. This file presently comprises 7600 compounds. The screening system has proved to be a valuable tool in the diagnosis of known metabolic errors; about 40 of them can be detected. The system has resulted in the discovery of 3 new inborn errors of metabolism: Methylmalonic acidemia, β-hydroxyisovaleric aciduria &β-methylcrotonylglycinuria, and pyroglutamic aciduria.