Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3 deficiency
Definition
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.
Also known as dihydrolipoamide dehydrogenase deficiency, DLD deficiency, E3-deficient maple syrup urine disease, pyruvate dehydrogenase E3 deficiency — per MONDO