LC/MS/MS is a powerful tool for the study of metabolic disorders.
For example, the simultaneous analysis of amino acids and acylcarnitines panels provides information on about 40 metabolic disorders such as phenylketonuria (PKU) and medium chain Acyl-CoA Dehydrogenase Deficiency (MCAD). A simple flow-injection analysis gives results in 2 minutes with minimal sample preparation.
In recent years, researchers have extended the use of LC/MS/MS to include the Very Long Chain Fatty Acids for characterizing the Peroxisomal Disorders and other clinically relevant markers such as the panel 17-OH progesterone/Androstenedione/Cortisol for characterizing the Congenital Adrenal Hyperplasia (CAH).
Separation of 45 amino acids in less than 18 minutes