Metabolomics, defined as the comprehensive analysis of compounds in a biological specimen, is an emerging technology that helps several pathologies to inform about new biomarkers. Metabolic diseases comprise a group of rare conditions that in total represent an important health problem. Historically, small numbers of metabolites have been used to diagnose complex metabolic diseases such as diabetes or metabolic diseases. Metabolomic methodology, due to the evolution of clinical chemistry technologies, could detect thousands of organic compounds. In this way, metabolomic approach gives information of metabolic pathways describing physiopathology that underlies disease, including the possibility of discovery of new markers that could be used to diagnose or check the efficacy of the treatments. Diabetes, classic inborn error of metabolism as methylmalonic aciduria, lysosomal diseases and rare optic neuropathy affecting adults are discussed in this chapter.
Part of the book: Metabolomics