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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)
