Catalog

2-hydroxyglutaric aciduria

No MMS code

Link to WHO Definition

2-hydroxyglutaric aciduria – http://id.who.int/icd/entity/896211058

2-hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterised biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.