An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (do).
Parent Term
Metabolism and nutrition disorders
Parent Definition
A group of disorders, inherited or not, that result in a metabolic malfunction.
Synonyms
L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric acidemia
Other Metabolites Mapped to '2-hydroxyglutaric aciduria'