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3-methylglutaconic aciduria
Summary
- Definition
- An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
- Super Class
- organic acidemia
External Links
- Disease Ontology
- DOID:0060336
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30084 | Enoyl-CoA hydratase, mitochondrial | |
| Q9UBM7 | 7-dehydrocholesterol reductase |
