classic maple syrup urine disease
Findings
No curated finding names classic maple syrup urine disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Definition from the Mondo Disease Ontology (MONDO:0017051), 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
5 names
Resolves to: classic maple syrup urine disease
- Also called
- classic BCKD deficiencyclassic branched-chain 2-ketoacid dehydrogenase deficiencyclassic branched-chain alpha-ketoacid dehydrogenase deficiencyclassic branched-chain ketoaciduriaclassic MSUD