A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

@inproceedings{Rzem2008AMM,
  title={A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair},
  author={Rim Rzem and Youn{\`e}s Achouri and Etienne Marbaix and Olivier Schakman and Elsa Wiame and Sandrine Marie and Philippe Gailly and M S Vincent and Maria Veiga-da-Cunha and Emile van Schaftingen},
  booktitle={Journal of Inherited Metabolic Disease},
  year={2008}
}
The neurometabolic disorder l-2-hydroxyglutaric aciduria is caused by mutations in a gene present on chromosome 14q22.1 and encoding l-2-hydroxyglutarate dehydrogenase. This FAD-linked mitochondrial enzyme catalyses the irreversible conversion of l-2-hydroxyglutarate to alpha-ketoglutarate. The formation of l-2-hydroxyglutarate results from a side-activity of mitochondrial l-malate dehydrogenase, the enzyme that interconverts oxaloacetate and l-malate, but which also catalyses, very slowly, the… CONTINUE READING