Catalog

L-2-hydroxyglutaric aciduria

No MMS code

Link to WHO Definition

L-2-hydroxyglutaric aciduria – http://id.who.int/icd/entity/562958433

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2- hydroxyglutaric aciduria characterised by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.