Catalog

D-2-hydroxyglutaric aciduria

No MMS code

Link to WHO Definition

D-2-hydroxyglutaric aciduria – http://id.who.int/icd/entity/1170122566

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterised biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.