L-2-hydroxyglutaric aciduria

(L2HGA)

Synonym(s)
- L-2-hydroxyglutarate dehydrogenase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- L2HGDH / L2-hydroxyglutarate dehydrogenase
  14q21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- L2-hydroxyglutarate dehydrogenase
Disease group(s)
- 13.1 Disorders of metabolite repair