PDHA1, also named as PHE1A, is one of the 3 enzymes of the pyruvate dehydrogenase complex. It is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA. Defects in PDHA1 are a cause of pyruvate dehydrogenase E1-alpha deficiency (PDHAD) and X-linked Leigh syndrome (X-LS).
