Maple Syrup Urine Disease — Research Summary
Printed from RareWays (rareways.com.au) on 24 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Branched-chain amino acids and gut microbiota: coregulation and impact on neurological function via the gut-brain axis.
Li Qiong et al. — Gut microbes (31 December 2026)
https://pubmed.ncbi.nlm.nih.gov/42444486/
- 2.
Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases
Bahareh Abtahi-Naeini et al. — Health Science Reports (22 September 2026)
https://doi.org/10.1002/hsr2.73230
- 3.
Full-spectrum cannabidiol-rich oil modulates behavior and neurochemical alterations in a rodent model of maple syrup urine disease.
da Silva Lemos Isabela et al. — Metabolic brain disease (3 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42690466/
- 4.
Evidence of docosahexaenoic acid deficiency in maple syrup urine disease: insights from plasma long-chain polyunsaturated fatty acid status.
Zubarioglu Tanyel et al. — European journal of clinical nutrition (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42286106/
- 5.
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.
Veraldi Silvio et al. — Journal of inherited metabolic disease (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42717705/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Maple Syrup Urine Disease
Maple syrup urine disease is a rare inherited disorder in which the body cannot fully break down certain amino acids from protein. These build up in the blood and can harm the brain, causing poor feeding, sleepiness and a sweet smell to the urine. Care involves a special low-protein diet, regular blood monitoring and urgent treatment during illness.
Most Recent Research
Diseases that cause neurological dysfunction, such as Parkinson's disease (PD), Alzheimer's disease (AD), and maple syrup urine disease (MSUD), among others, are characterized by complex and multifaceted etiologies. There is growing evidence that branched-chain amino acids (BCAAs), regulated by the gut microbiota, play a critical role in the development of the central nervous system (CNS) disorders. This review focuses on the potential role of branched-chain amino acid metabolism in regulating brain function and gut microbiota. First, we summarize the current understanding of BCAAs, encompassing their biochemical metabolism, function, and systemic metabolic mechanisms. Subsequently, we delve into the mechanisms through which the gut microbiota regulates branched-chain amino acid metabolism, along with its mechanistic insights and recent evidence of its impact on neurological disorders. Finally, we discuss future research directions and challenges regarding gut BCAAs metabolism as a potential treatment for brain and gastrointestinal dysfunction.
Common Questions
What is Maple Syrup Urine Disease?
Maple syrup urine disease is a rare inherited disorder in which the body cannot fully break down certain amino acids from protein. These build up in the blood and can harm the brain, causing poor feeding, sleepiness and a sweet smell to the urine. Care involves a special low-protein diet, regular blood monitoring and urgent treatment during illness.
How many clinical trials are available for Maple Syrup Urine Disease?
RareWays currently indexes 9 clinical trials for Maple Syrup Urine Disease, of which 1 is actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Maple Syrup Urine Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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