/pyruvate dehydrogenase E2 deficiency

pyruvate dehydrogenase E2 deficiency

Rare Disease

MONDO:0009502

Also Known As

dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiencydihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiencypyruvate dehydrogenase E2 deficiencypyruvate dehydrogenase complex component E2 deficiencyPDHDDlactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex

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.