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Metabolomics is a Powerful Complement to Genomics for Diagnosing Rare Diseases

Inborn errors of metabolism (IEMs) are rare inherited disorders​that 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. ​

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