EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.8.1.4 | 3-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 |
| 1.8.1.4 | Acidosis |
9540846 |
Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.8.1.4 | Acidosis, Lactic |
413089 |
Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy. |
causal interaction
unassigned |
4
0 |
| 1.8.1.4 | Acidosis, Lactic |
643378 |
A defect in branched-chain amino acid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.8.1.4 | Acidosis, Lactic |
6418873 |
Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
| 1.8.1.4 | Acidosis, Lactic |
6430599 |
Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria. |
unassigned |
0 |
| 1.8.1.4 | Acidosis, Lactic |
6897145 |
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 1.8.1.4 | Acidosis, Lactic |
8652022 |
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 1.8.1.4 | Acidosis, Lactic |
11323749 |
Inhibition of in vitro CO2 production and lipid synthesis by 2-hydroxybutyric acid in rat brain. |
causal interaction
unassigned |
3
0 |
| 1.8.1.4 | Acidosis, Lactic |
11687750 |
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
