Pyruvate dehydrogenase deficiency

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 Dehydrogenase Complex Deficiency, pyruvate decarboxylase deficiency, pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase deficiency

51 clinical trials for this condition and its sub-types.