EC Number   |
General Information |
Reference |
|---|
   1.2.4.4 | malfunction |
Caenorhabditis elegans with deficiency in enzyme function manifests larval arrest and embryonic lethal phenotypes |
740756 |
| 1.2.4.4 | malfunction |
maple syrup urine disease is an autosomal recessive metabolic disorder resulting from a deficiency in the branched-chain alpha-keto acid dehydrogenase complex |
712648 |
| 1.2.4.4 | malfunction |
maple syrup urine disease is an inborn error of metabolism of the branched chain alpha-ketoacid dehydrogenase complex |
713078 |
| 1.2.4.4 | malfunction |
maple syrup urine disease results from genetic enzyme defects, which lead to accumulation of toxic levels of branched chain amino acids and branched-chain alpha-keto acids that result in brain swelling |
725082 |
| 1.2.4.4 | metabolism |
the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC) is a multisubunit complex of enzymes which catalyzes the oxidative decarboxylation of branched short chain alpha-ketoacids and function in the TCA cycle as key enzymes. Among them, the branched-chain 2-oxo acid dehydrogenase, 2-oxoisovalerate dehydrogenase, plays an essential role in the TCA cycle |
-, 742612 |
| 1.2.4.4 | physiological function |
branched-chain amino acids are metabolized within both the vasculature and neurons in the human brain. Glutamate dehydrogenase isozymes, branched-chain aminotransferase and the branched-chain alpha-ketoacid dehydrogenase proteins may operate in conjunction with astrocytic glutamate transporters and glutamine synthetase to regulate the availability of glutamate |
763513 |
| 1.2.4.4 | physiological function |
branched-chain fatty acids make up 50% of membrane fatty acids in wild-type but only 31% in the branched-chain alpha-keto acid dehydrogenase BKD-deficient mutant. Branched-chain fatty acids level is about 80% in the pyruvate dehydrogenase PDH-deficient strain and 38% in the BKD:pruvate dehydrogenase-deficient strain. BKD-deficient mutants show decreased membrane fluidity,while the PDH-deficient mutant shows increased membrane fluidity. The BKD- and PDH-deficient strains grow slower and the BKD:PDH-deficient strain grows slowest at 37°C. The BKD-deficient strain produces higher levels of staphyloxanthin. The PDH-deficient and BKD:PDH-deficient strains produce very little staphyloxanthin. The BKD-deficient strain shows increased susceptibility to daptomycin |
-, 763353 |
