Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. The disease is pyruvate dehydrogenase E2 deficiency (MONDO_0009502). Also known as: dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase complex component E2 deficiency.