Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency
Definition
A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
Also known as PDH, PDHC, pyruvate decarboxylase deficiency, Pyruvate Dehydrogenase Complex Deficiency, pyruvate dehydrogenase deficiency — per MONDO