2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria
Definition
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.
Also known as 2-hydroxyglutaric acidemia, 2-hydroxyglutaric aciduria — per MONDO