L-2-hydroxyglutaric aciduriaL-2-hydroxyglutaric acidemiaOther Metabolites Mapped to '2-hydroxyglutaric aciduria'HMDB0000694 (L-2-Hydroxyglutaric acid) HMDB0003405 (D-Lysine) HMDB0000112 (gamma-Aminobutyric acid)
- HMDB0000694 (L-2-Hydroxyglutaric acid)
- 2-hydroxyglutaric aciduria
- 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.