title: Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
abstract: The overall and three component activities of pyruvate dehydrogenase complex were measured in the liver and muscle from a patient who died at 1.9 years with increased concentrations of serum lactate, alpha-ketoglutarate and branched chain amino acids. The component activities of both lipoate acetyltransferase and pyruvate dehydrogenase were similar to those of normal controls, but the overall pyruvate dehydrogenase complex activity was 11 to 30% of controls and lipoamide dehydrogenase activity was not detected. The overall activity was significantly increased by the addition of lipoamide dehydrogenase purified from human liver. Immunochemical studies carried out with antibody prepared against lipoamide dehydrogenase from rat liver, could detect no immunoreactive material in liver and muscle homogenates from the patient, suggesting that the deficiency of lipoamide dehydrogenase activity was due to the lack of enzyme protein.
mesh_terms: D000123:Acetyltransferases / Q000032:analysis; D000138:Acidosis / Q000201:enzymology*; D000597:Amino Acids, Branched-Chain / Q000097:blood; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency* / Q000276:immunology; D051047:Dihydrolipoyllysine-Residue Acetyltransferase; D006801:Humans; D007120:Immunochemistry; D005779:Immunodiffusion; D007223:Infant; D007651:Keto Acids / Q000652:urine*; D007773:Lactates / Q000097:blood*; D008099:Liver / Q000201:enzymology; D008297:Male; D009132:Muscles / Q000201:enzymology; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis*
chemical_list: D000597:Amino Acids, Branched-Chain; D007651:Keto Acids; D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex; D008058:Dihydrolipoamide Dehydrogenase; D000123:Acetyltransferases; D051047:Dihydrolipoyllysine-Residue Acetyltransferase