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thiamine-responsive maple syrup urine disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thiamine-responsive maple syrup urine disease

MONDO:0017054

Also known as:thiamine-responsive BCKD deficiencythiamine-responsive MSUDthiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency

Overview

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.

ResearchLimited published research (4 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for thiamine-responsive maple syrup urine disease.

4 publications have been identified in PubMed for thiamine-responsive maple syrup urine disease. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Upadia J (2025). [PMID: 40823510](https://pubmed.ncbi.nlm.nih.gov/40823510/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]
Rostampour N (2025). [PMID: 39773751](https://pubmed.ncbi.nlm.nih.gov/39773751/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Frankel R (2025). [PMID: 40395091](https://pubmed.ncbi.nlm.nih.gov/40395091/). *J Investig Med High Impact Case Rep*. [Case Report / Case Series]
Fascetti AJ (2024). [PMID: 39113982](https://pubmed.ncbi.nlm.nih.gov/39113982/). *Heliyon*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:268184

GARD

Genetic and Rare Diseases Info Center

GARD:17266

Questions for Your Care Team

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thiamine-responsive maple syrup urine disease

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team