thiamine-responsive maple syrup urine disease
MONDO:0017054Mondo
Findings
No curated finding names thiamine-responsive maple syrup urine disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.
Definition from the Mondo Disease Ontology (MONDO:0017054), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- DBTHGNC:2698
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: thiamine-responsive maple syrup urine disease
- Also called
- thiamine-responsive BCKD deficiencythiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiencythiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiencythiamine-responsive MSUD