Catalog

Pyruvate dehydrogenase complex E3-binding protein deficiency

No MMS code

Link to WHO Definition

Pyruvate dehydrogenase complex E3-binding protein deficiency – http://id.who.int/icd/entity/1340729972

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis and neurological dysfunction.