D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria
Definition
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
Also known as D-2-HGA, D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria type 1 — per MONDO