intermittent maple syrup urine disease
Findings
No curated finding names intermittent maple syrup urine disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
Definition from the Mondo Disease Ontology (MONDO:0017053), read 2026-09-29. CC BY 4.0.
Genes
3 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: intermittent maple syrup urine disease
- Also called
- intermittent BCKD deficiencyintermittent branched-chain 2-ketoacid dehydrogenase deficiencyintermittent branched-chain alpha-ketoacid dehydrogenase deficiencyintermittent MSUD