Catalog

Pyruvate dehydrogenase complex E3 subunit deficiency

No MMS code

Link to WHO Definition

Pyruvate dehydrogenase complex E3 subunit deficiency – http://id.who.int/icd/entity/1948020523

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, ) characterised by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.