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Key points Historical note and terminology Key points Pyruvate dehydrogenase complex deficiency was first described in 1970 in a 9-year-old boy with an intermittent combined cerebellar and choreoathetoid movement disorder determined to be due to an inherited defect in pyruvate decarboxylase (aka, the initial step in the catalytic oxidative decarboxylation of pyruvate to acetyl-CoA by pyruvate dehydrogenase complex) (10)
10.1097/01.blo.0000164526.08610.97
