pyruvate dehydrogenase E2 deficiency
Definition A major cause (OMIM:245348) of primary lactic acidosis and neurologic dysfunction of early–infancy and childhood– onset, which is characterised by episodic dystonia. Other common features of pyruvate dehydrogenase deficiency–e.g., hypotonia and ataxia, are less prominent.
Molecular pathology Defects of DLAT, which encodes dihydrolipoamide acetyltransferase, an enzyme that converts pyruvate to acetyl coenzyme A, cause pyruvate dehydrogenase E2 deficiency.
Synonym Lactic acidaemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex