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Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

1 Apr 2019

Abstract excerpt

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 of lactic acidosis and epilepsy. The proband is a compound heterozygote for variants in LIPT1, which encodes the lipoyltransferase required for 2-ketoacid...

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PMID: 31042466
DOI: 10.1016/j.celrep.2019.04.005

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