Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

Three novel mutations in the coding region of E1 alpha gene were found in three PDC-deficient male patients, including a missense mutation (M181V), a 3 bp deletion (AGA, corresponding to R282), and a 16 bp insertion (CAGTGGATCAAGTTTA), causing a frameshift starting with lysine 358 and resulting in decrease of both E1 subunits.