Pyruvate dehydrogenase E2 deficiency

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 E2 deficiency, pyruvate dehydrogenase complex component E2 deficiency, PDHDD, lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex

19 clinical trials for this condition and its sub-types.