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Pyruvate dehydrogenase deficiency

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Pyruvate dehydrogenase deficiency

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Pyruvate dehydrogenase deficiency

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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.