Targeted metabolomics

Targeted metabolomics is an analytical application of mass spectrometry that encompasses the measurement of defined groups of chemically characterized and biochemically annotated metabolites. Targeted metabolomic platforms have become an integral part of clinical research and diagnosis, allowing the better characterization and understanding of pathophysiology mechanisms of disease, in particular for metabolic disorders. Accordingly, the greatest success of the application of targeted metabolomics is represented by the diagnosis of inborn errors of metabolism through the national newborn screening programs. The alteration in the clinical phenotype of the newborns reflects alterations in their metabolome. In fact, variations in the metabolomic signatures are promptly detected through the precise and accurate quantitation of “biomarker metabolites” that are confidently specific for certain diseases. The early diagnosis performed via targeted metabolomic approaches allows the presymptomatic management of the patients, preventing severe sequelae and permanent damage in organs and tissues.