Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle.
We have measured the total activity of pyruvate dehydrogenase (PDH) complex, by in vitro activation with a broad specificity protein phosphatase, and the basal activity, supposed to be present in vivo, in biopsied muscles from three patients with PDH complex deficiency and 11 patients with lactic acidemia. Results showed that the total PDH complex activity must be determined in biopsied muscles for the diagnosis, because the basal activities of two of three patients with PDH complex deficiency overlapped those of two patients with lactic acidemia whose total activities were within normal range.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology* / Q000473:pathology; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease
D011768:Pyruvate Dehydrogenase Complex