Catalog

Pyruvate dehydrogenase complex E2 subunit deficiency

No MMS code

Link to WHO Definition

Pyruvate dehydrogenase complex E2 subunit deficiency – http://id.who.int/icd/entity/1626957624

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.