Potential of capillary electrophoresis, tandem mass spectrometry and coupled capillary electrophoresis–tandem mass spectrometry as diagnostic tools

Urine and blood samples from patients with known metabolic disorders have been analyzed by CE, MS–MS and CE–MS–MS. For the identification of defects in acylcarnitine metabolism, blood spots on filter paper were analyzed using an MS–MS “neonatal screening” approach. Direct CE–MS–MS analysis was used for the analysis of urine samples from patients with different metabolic disorders, including galactosemia, neuroblastoma, Zellweger syndrome, propionic acidemia and alcaptonuria. The sensitivity of the CE–MS–MS method was increased by use of multiple reaction monitoring.