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2-hydroxyglutaric aciduria
Summary
- 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.
- Super Class
- amino acid metabolic disorder
External Links
- Disease Ontology
- DOID:0050573
- Mondo Disease Ontology
- MeSH
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| Q9H9P8 | L-2-hydroxyglutarate dehydrogenase, mitochondrial |
