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Diagnostics Genetics and epigenetics, Omics

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.

This approach allows us to identify new connections on the metabolic chart and hopefully develop ways to compensate for metabolic defects in IEMs...

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About the Author

Jonathan James

As an assistant editor for The Translational Scientist, I can combine two of my passions; translational science research and science communication. Having thrown myself into various editing and other science communication gigs whilst at University I came to realise the importance of good quality content that delivers in an exciting and engaging way.

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