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Results 1 - 10 of 245 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 2414042 Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency. causal interaction
diagnostic usage
ongoing research
unassigned
4
1
3
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 3080729 Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. causal interaction
diagnostic usage
ongoing research
unassigned
3
1
3
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 15712224 A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 20061171 Classical maple syrup urine disease and brain development: principles of management and formula design. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 26683372 Developmental Defects of Caenorhabditis elegans Lacking Branched-chain ?-Ketoacid Dehydrogenase Are Mainly Caused by Monomethyl Branched-chain Fatty Acid Deficiency. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 30709776 Mild inborn errors of metabolism in commonly used inbred mouse strains. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 32154062 Earwax: A potentially useful medium to identify inborn errors of metabolism? causal interaction
diagnostic usage
unassigned
4
2
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.43-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency 33996492 Hyperleucinosis during infections in maple syrup urine disease post liver transplantation. causal interaction
therapeutic application
unassigned
4
1
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.4Acidosis 1465068 Metabolic acidosis accelerates whole body protein degradation and leucine oxidation by a glucocorticoid-dependent mechanism. causal interaction
unassigned
1
0
Display the word mapDisplay the reaction diagram Show all sequences 1.2.4.4Acidosis 1501410 Chronic metabolic acidosis accelerates whole body proteolysis and oxidation in awake rats. causal interaction
unassigned
1
0
Results 1 - 10 of 245 > >>