Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency, also written as pyruvate dehydrogenase complex deficiency, PDCD or PDH deficiency, is a rare neurodegenerative disorder linked to abnormal mitochondrial metabolism. It is a genetic disease caused by mutations in one of the components of the pyruvate dehydrogenase complex, a multi-enzyme complex that acts as a key regulatory step in the central pathways of energy metabolism inside mitochondria. The source stresses that the disorder is heterogeneous, varying widely both in how patients present clinically and in the biochemical abnormalities that are found.