Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E2 deficiency
Definition
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.
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, pyruvate dehydrogenase E2 deficiency — per MONDO