label: pyruvate dehydrogenase E3 deficiency
label_lc: pyruvate dehydrogenase e3 deficiency
description: "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."