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American Journal of Medical Genetics Part A, 2018 Lipoic acid is an essential cofactor for the mitochondrial 2‐ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe ...
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