Nowadays, metabolic profiling is widely applied in clinical medicine for the diagnosis and study of human diseases. The number of these applications and their diversity have increased rapidly in the past few years. This review summarizes recent advances in the methods for sample pretreatment and the clinical application of GC-MS to the study of uraemia, diabetes mellitus, dicarboxylic aciduria and other organic acidurias. High-resolution GC-MS is well suited to the profile analysis of metabolic disorders.