Catalog

Pyruvate dehydrogenase complex E1-alpha subunit deficiency

No MMS code

Link to WHO Definition

Pyruvate dehydrogenase complex E1-alpha subunit deficiency – http://id.who.int/icd/entity/1253259207

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.