title: Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia.
abstract: Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.
mesh_terms: D000293:Adolescent; D055598:Chemical Phenomena; D002621:Chemistry; D008058:Dihydrolipoamide Dehydrogenase / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005621:Friedreich Ataxia / Q000201:enzymology*; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000235:genetics / Q000378:metabolism; D007700:Kinetics; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics / Q000378:metabolism
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D007655:Ketoglutarate Dehydrogenase Complex; D008058:Dihydrolipoamide Dehydrogenase