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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
isovaleric acidemia
Summary
- Synonym
-
- Isovaleryl-CoA dehydrogenase deficiency
- isovaleric acid CoA dehydrogenase deficiency
- isovaleric aciduria
- Definition
- An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
- Super Class
- organic acidemia
External Links
- Disease Ontology
- DOID:14753
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5319 | PLA2G1B | phospholipase A2 group IB | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 9536 | PTGES | prostaglandin E synthase | |
| 151056 | PLB1 | phospholipase B1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14684 | Prostaglandin E synthase | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
