intermediate maple syrup urine disease
MONDO:0017052Mondo
Findings
No curated finding names intermediate maple syrup urine disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017052), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
4 names
Resolves to: intermediate maple syrup urine disease
- Also called
- Intermediate BCKD deficiencyIntermediate branched-chain 2-ketoacid dehydrogenase deficiencyIntermediate branched-chain alpha-ketoacid dehydrogenase deficiencyIntermediate MSUD