Combining metabolomics and DNA sequencing could be the key to discovering new inborn errors of metabolism in children.
Jonathan James | | Longer Read
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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