Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. The disease is pyruvate dehydrogenase E3 deficiency (MONDO_0009529). Also known as: DLD deficiency, E3-deficient maple syrup urine disease, dihydrolipoamide dehydrogenase deficiency.