EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.2.1.18 | acetyl-coa c-acetyltransferase deficiency |
7957389 |
Screening for defects of branched-chain amino acid metabolism. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 4.2.1.18 | Acidosis, Lactic |
16736096 |
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. |
causal interaction
diagnostic usage
unassigned |
2
3
0 |
| 4.2.1.18 | Barth Syndrome |
16527507 |
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. |
diagnostic usage
unassigned |
2
0 |
| 4.2.1.18 | Cardiomyopathy, Dilated |
28348715 |
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 4.2.1.18 | Cardiomyopathy, Hypertrophic |
16736096 |
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. |
causal interaction
diagnostic usage
unassigned |
2
3
0 |
| 4.2.1.18 | Cataract |
16736096 |
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. |
causal interaction
diagnostic usage
unassigned |
2
3
0 |
| 4.2.1.18 | Dehydration |
29742810 |
Metabolic reconstructions identify plant 3-methylglutaconyl-CoA hydratase that is crucial for branched-chain amino acid catabolism in mitochondria. |
diagnostic usage
ongoing research
unassigned |
3
2
0 |
| 4.2.1.18 | Heart Failure |
28348715 |
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 4.2.1.18 | hydroxymethylglutaryl-coa lyase deficiency |
2480857 |
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. |
diagnostic usage
therapeutic application
unassigned |
4
1
0 |
| 4.2.1.18 | hydroxymethylglutaryl-coa lyase deficiency |
7957389 |
Screening for defects of branched-chain amino acid metabolism. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
