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Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

1
National Liver Institute, Menoufia University, Shebeen El Kom 55955, Egypt
2
NIH West Coast Metabolomics Center, University of California Davis, Davis, CA 95616, USA
*
Author to whom correspondence should be addressed.
Metabolites 2019, 9(10), 242; https://doi.org/10.3390/metabo9100242
Received: 6 July 2019 / Revised: 11 October 2019 / Accepted: 15 October 2019 / Published: 21 October 2019
(This article belongs to the Special Issue Metabolomics in the Study of Disease)
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face the problem of false negative and false positive diagnoses that could be overcome if metabolic screening adopted analyses of a broader range of analytes. Hence, we here review the prospects of using untargeted metabolomics for IEM screening. Untargeted metabolomics and lipidomics do not rely on predefined target lists and can detect as many metabolites as possible in a sample, allowing to screen for many metabolic pathways simultaneously. Examples are given for nontargeted analyses of IEMs, and prospects and limitations of different metabolomics methods are discussed. We conclude that dedicated studies are needed to compare accuracy and robustness of targeted and untargeted methods with respect to widening the scope of IEM diagnostics. View Full-Text
Keywords: mass spectrometry; LC-MS; phenylketonuria; organic aciduria; lysosomal storage disease; mitochondrial disorders; aminoacidemia mass spectrometry; LC-MS; phenylketonuria; organic aciduria; lysosomal storage disease; mitochondrial disorders; aminoacidemia
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Ismail, I.T.; Showalter, M.R.; Fiehn, O. Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. Metabolites 2019, 9, 242.

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