Pyruvate dehydrogenase phosphatase deficiency
Pyruvate dehydrogenase phosphatase deficiency
Definition
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
Also known as PDH phosphatase deficiency, pyruvate dehydrogenase phosphatase deficiency — per MONDO