Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase complex deficiency
SpecialtyEndocrinology Edit this on Wikidata

Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC).[1] The PDC is a multi-enzyme complex that plays a vital role as a key regulatory step in the central pathways of energy metabolism in the mitochondria.[2] The disorder shows heterogeneous characteristics in both clinical presentation and biochemical abnormality.[3]

  1. ^ Brown, G K; Otero, L J; LeGris, M; Brown, R M (November 1994). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
  2. ^ Patel, Mulchand S.; Nemeria, Natalia S.; Furey, William; Jordan, Frank (2014-06-13). "The Pyruvate Dehydrogenase Complexes: Structure-based Function and Regulation". Journal of Biological Chemistry. 289 (24): 16615–16623. doi:10.1074/jbc.R114.563148. ISSN 0021-9258. PMC 4059105. PMID 24798336.
  3. ^ Reference, Genetics Home. "pyruvate dehydrogenase deficiency". Genetics Home Reference. Retrieved 2016-11-08.