PDHA1 (OMIM 300502) is an X‐chromosome gene, and PDHA1 mutation is the main reason for Pyruvate dehydrogenase complex deficiency (PDCD), and about 25% of PDCD can cause LS (DeBrosse et al., 2012; Patel et al., 2012). This evidence concerns the gene PDHA1 and Leigh syndrome.