Novel biomarkers for inborn errors of metabolism in the metabolomics era

ABSTRACT

Inborn errors of metabolism arise due to deficiency of enzymes in metabolic pathways. Recent years have seen the onset of novel technologies like proteomics, metabolomics, lipidomics, and urinomics. In the past many novel biomarkers have been developed like succinyl acetone for tyrosinemia, a number of organic acids for organic acidurias, acylcarnitines for the detection of fatty acid oxidation disorders and organic acidurias etc. With the advent of the -omics technologies, the number of novel biomarkers has increased dramatically. The use of techniques like mass spectrometry and NMR spectroscopy has led to a faster diagnosis of inborn errors of metabolism and smaller sample requirement. Hundreds of markers can be detected in a single urine sample, making diagnosis easier. There is an urgent need for implementing such techniques into routine practice in India.