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, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. The disease is 2-hydroxyglutaric aciduria (Monarch Disease Ontology id MONDO_0016001). Also known as: 2-hydroxyglutaric acidemia.