Pyruvate Dehydrogenase Complex Deficiency (PDCD) - Mystery Diagnosis

This is a story filmed on a boy who mysteriously became sick as a toddler and was found to have an extremely rare mitochondrial disorder named Pyruvate Dehydrogenase Complex Deficiency. Pyruvate Dehydrogenase Complex Deficiency (PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. “PDH deficiency” is an X-linked disease that shows heterogeneous characteristics in both clinical presentation and biochemical abnormality.

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