Disease association ontology term - MONDO:0017052 - intermediate maple syrup urine disease
Term summary
- ID
- MONDO:0017052
- Name
- intermediate maple syrup urine disease
- Ontology or CV name
- Disease association
- Definition
- Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.