Catalog

Pyruvate dehydrogenase complex E1-beta subunit deficiency

No MMS code

Link to WHO Definition

Pyruvate dehydrogenase complex E1-beta subunit deficiency – http://id.who.int/icd/entity/151727900

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, ) characterised by severe lactic acidosis, developmental delay and hypotonia. There are no specific clinical features that distinguish this condition from pyruvate dehydrogenase E1-alpha deficiency.