Pyruvate dehydrogenase deficiency
Summary
Pyruvate dehydrogenase deficiency, also called pyruvate dehydrogenase complex deficiency, is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. Pyruvate dehydrogenase deficiency is an X-linked disease that shows heterogeneous characteristics in both clinical presentation and biochemical abnormality. The pyruvate dehydrogenase complex 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.