| Dataset | Reactome Pathways 2024 |
| Category | structural or functional annotations |
| Type | pathway |
| Description | An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (Human Disease Ontology, DOID_9269) |
| External Link | https://reactome.org/PathwayBrowser/#/R-HSA-9865114 |
| Similar Terms | |
| Downloads & Tools |
5 proteins participating in the Maple Syrup Urine Disease pathway from the Reactome Pathways 2024 dataset.
