Combined Use of Gas Chromatography, Mass Spectrometry, and Computer in Diagnosis and Studies of Metabolic Disorders

Abstract

We describe a system for multicomponent analyses of biological materials. The methods include gas liquid chromatography (GLC) for separation purpose, mass spectrometry for identification and structure studies, and use of a computer for data handling. Urine and serum samples as well as biopsies and other biological materials can be analyzed. The peaks from the eight different GLC-systems used are identified by computer matching of the corresponding mass spectra against a library file of 17,000 reference spectra. The system is well suited for the diagnosis and study of inherited as well as other metabolic disturbances. About 40 of the known inborn errors can be detected. The application of the methods to the analysis of more than 700 patients has led to the discovery of three new inborn errors: methylmalonic aciduria, β-methylcrotonyl-CoA carboxylase deficiency, and pyroglutamic aciduria. The methods also represent a valuable tool in the study of drug metabolism.