| Dataset | Reactome Pathways 2024 |
| Category | structural or functional annotations |
| Type | pathway |
| Description | An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (Human Disease Ontology, DOID_0050710) |
| External Link | https://reactome.org/PathwayBrowser/#/R-HSA-9909438 |
| Similar Terms | |
| Downloads & Tools |
2 proteins participating in the 3-Methylcrotonyl-CoA carboxylase deficiency pathway from the Reactome Pathways 2024 dataset.
