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

Rare Disease

intermittent maple syrup urine disease

MONDO:0017053

Also known as:intermittent BCKD deficiencyintermittent MSUDintermittent branched-chain 2-ketoacid dehydrogenase deficiency

Overview

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.

ResearchLimited published research (1 article)

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 intermittent maple syrup urine disease.

1 publication has been identified in PubMed for intermittent maple syrup urine disease. Research spans Case Report / Case Series (100%).

Recent Publications

Upadia J (2025). [PMID: 40823510](https://pubmed.ncbi.nlm.nih.gov/40823510/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:268173

GARD

Genetic and Rare Diseases Info Center

GARD:17265

Questions for Your Care Team

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intermittent 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