Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans
Summary: Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes.Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging.Here, we integrate genomics and metabolomics to identify a cause Integrated Dishwasher of lactic acidosis and epilepsy.The proband is a compound heter