Gas chromatography — mass spectrometry in diagnosis of human metabolic diseases

Many human diseases result in characteristic changes in the biochemical composition of the cells and body fluids. Gas chromatography-mass spectrometry (GC-MS) and computer handling of the data are suitable for detecting such changes, e.g. the production of abnormal metabolites in a patient. The methods can be used to diagnose and study about 100 different metabolic disorders and have resulted in the discovery of 30 new inborn errors of metabolism.