L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria
Definition
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
Also known as L-2-HGA, L-2-hydroxyglutaric acidemia, L-2-hydroxyglutaric aciduria — per MONDO