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Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
Estimated prevalence: 1-9 in 1,000,000 (Rare).
No clinical trials have been registered for intermediate maple syrup urine disease.
5 publications have been identified in PubMed for intermediate maple syrup urine disease. Research spans Gene Therapy / Novel Therapeutics (40%), Case Report / Case Series (20%), and Clinical Trial Publication (20%).
Annereau M (2026). [PMID: 41125146](https://pubmed.ncbi.nlm.nih.gov/41125146/). *European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences*. [Clinical Trial Publication]
Upadia J (2025). [PMID: 40823510](https://pubmed.ncbi.nlm.nih.gov/40823510/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]
Zhu H (2024). [PMID: 39363617](https://pubmed.ncbi.nlm.nih.gov/39363617/). *Annals of Indian Academy of Neurology*. [Gene Therapy / Novel Therapeutics]
Pretese R (2024). [PMID: 39339744](https://pubmed.ncbi.nlm.nih.gov/39339744/). *Nutrients*. [Epidemiology / Natural History]
Greig JA (2024). [PMID: 39001827](https://pubmed.ncbi.nlm.nih.gov/39001827/). *Hum Gene Ther*. [Gene Therapy / Novel Therapeutics]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:21 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center