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methylmalonic acidemia
Summary
- Synonym
-
- methylmalonic aciduria
- Definition
- An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
- Super Class
- organic acidemia
External Links
- Disease Ontology
- DOID:14749
- Mondo Disease Ontology
- MeSH
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4329 | ALDH6A1 | aldehyde dehydrogenase 6 family member A1 | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 8801 | SUCLG2 | succinate-CoA ligase GDP-forming subunit beta | |
| 8802 | SUCLG1 | succinate-CoA ligase GDP/ADP-forming subunit alpha | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
| 84693 | MCEE | methylmalonyl-CoA epimerase | |
| 197322 | ACSF3 | acyl-CoA synthetase family member 3 |
Related Glycoprotein
