Condition: L-2-HYDROXYGLUTARIC ACIDURIA


rs267607206 in L2HGDH gene and L-2-HYDROXYGLUTARIC ACIDURIA PMID 15385440 2004 L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

PMID 15548604 2004 A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

PMID 16134148 2005 Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.