Contents

L-2-Hydroxyglutaric Aciduria (L2GA)

Disease Info

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	OMIM Orphanet ClinicalTrials PubMed

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