ABSTRACT

Omics technologies encompass a suite of high-throughput analytical techniques that enable comprehensive investigation of biological systems at the molecular level. A subset of omics technology, metabolomics, focuses on the comprehensive qualitative, quantitative, relational, spatial, and temporal analysis of metabolites under various conditions and states. Rare diseases are conditions that affect a relatively small number of people. Approximately 6,000-8,000 rare diseases have been identified to date. Inborn errors of metabolism (IEMs) represent a significant portion of rare diseases and have a genetic origin. Although IEMs are genetically based, the traditional one-gene-one-disease model is no longer universally accepted for these disorders. Each IEM presents a unique phenotype, necessitating a personalized approach. Therefore, metabolomics—the global study of small molecules, typically between 50 and 1500 Daltons—is expected to contribute significantly to a better understanding of the pathogenesis and pathophysiology of IEMs. This review discusses the current state of knowledge regarding the diagnosis, monitoring, and development of novel therapeutic strategies for patients with IEMs, based on the latest literature.