- Compound
- CDB004802 (gamma-Aminobutyric acid)
- Term
- 2-hydroxyglutaric aciduria
- Definition
- 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 aciduriaL-2-hydroxyglutaric acidemiaOther Compounds Mapped to '2-hydroxyglutaric aciduria'CDB000120 (Lysine)CDB004802 (gamma-Aminobutyric acid)References