A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease.
D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007118:Immunoassay; D007658:Ketone Oxidoreductases / Q000172:deficiency*; D046911:Macromolecular Substances; D008375:Maple Syrup Urine Disease / Q000201:enzymology*; D009097:Multienzyme Complexes / Q000172:deficiency*
D046911:Macromolecular Substances; D009097:Multienzyme Complexes; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)