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Fields & Applications Clinical, Genomics & DNA Analysis, Metabolomics & Lipidomics

IEM Identification

Although individually exceedingly rare, together inborn errors of metabolism (IEM) make up a sizeable portion of the broader spectrum of genetic disorders. Nevertheless, they remain underdiagnosed and undertreated (1). A multidisciplinary group based at the University of Texas Southwestern Medical Center in Dallas are working to improve our understanding of these diverse conditions. In a recent study, they combined genomic and metabolomic data to diagnose lipoyltransferase-1 deficiency (LIPT1D), an IEM characterized by abnormal brain development, seizures, and lactic acidosis (2). The team are optimistic that the new approach could provide the basis for more routine identification and treatment of IEMs.

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About the Author

Jonathan James

Having thrown myself into various science communication activities whilst studying science at University, I soon came to realize where my passions truly lie; outside the laboratory, telling the stories of the remarkable men and women conducting groundbreaking research. Now, at Texere, I have the opportunity to do just that.

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