EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.3.1.181 | Acidosis, Lactic |
27247813 |
Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. |
unassigned |
0 |
| 2.3.1.181 | Brain Diseases |
28757203 |
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. |
causal interaction
unassigned |
4
0 |
| 2.3.1.181 | Leigh Disease |
24341803 |
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. |
causal interaction
unassigned |
3
0 |
| 2.3.1.181 | Mitochondrial Diseases |
32508887 |
Progress in the Enzymology of the Mitochondrial Diseases of Lipoic Acid Requiring Enzymes. |
causal interaction
unassigned |
1
0 |
