Metabolomics is a Powerful Complement to Genomics for Diagnosing Rare Diseases
Inborn errors of metabolism (IEMs) are rare inherited disordersthat impair the production and/or activity of enzymes, transporters, or cofactors required for normal metabolism. Subsequently, essential metabolites are not adequately produced, and/or metabolic byproducts accumulate upstream of the metabolic defect. Due to this phenomenon, IEMs can be diagnosed by identifying metabolites that are present in abnormal amounts.
Learn how this study leveraged Metabolon’s global UHPLC-MS/MS platform to evaluate global metabolomic profiling as a tool for diagnosing IEMs.