| Oxidative stress | L-2-hydroxyglutarate can generate reactive oxygen species |
| Energy metabolism impairment | Secondary mitochondrial dysfunction |
| Epigenetic effects | 2-ketoglutarate is a cofactor for DNA demethylases; accumulation of L-2-hydroxyglutarate may interfere with epigenetic regulation |
| Excitotoxicity | Potential effects on glutamate signaling |
| Cerebellar ataxia | The most consistent feature, characterized by: |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
No AI portrait yet
No comments yet. Be the first to comment!