title: Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase.
abstract: Lipoamide dehydrogenase (LAD) kinetic values, Km and Vmax, were normal in 11 patients with Friedreich ataxia. Fibroblast activities of the pyruvate and alpha-ketoglutarate dehydrogenase complex, and LAD activities, were also normal. There was no reduction in oxidative decarboxylation of pyruvate, alpha-ketoglutarate, or several other substrates in intact fibroblasts. Methodologic differences may account for differences of opinion about putative abnormalities of the alpha-ketoacid dehydrogenase complexes.
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D008058:Dihydrolipoamide Dehydrogenase / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005621:Friedreich Ataxia / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007655:Ketoglutarate Dehydrogenase Complex / Q000378:metabolism; D008099:Liver / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009243:NAD / Q000378:metabolism; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D009243:NAD; D007655:Ketoglutarate Dehydrogenase Complex; D008058:Dihydrolipoamide Dehydrogenase