Catalog

Pyruvate dehydrogenase phosphatase deficiency

No MMS code

Link to WHO Definition

Pyruvate dehydrogenase phosphatase deficiency – http://id.who.int/icd/entity/1709497558

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, ) characterised by lactic acidemia in the neonatal period