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Coverage: all available years, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Beta-Mannosidosis: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program.
Bezerra Flávia Caroline Moreira et al., Animal genetics (1 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42017430/
- 2.
Beta-Mannosidosis
Martin Rios A et al. (19 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42160655/
- 3.
An Essential Parameters of Beta-D Mannosidosis Include Signs as well as Symptoms, Brain Image, Causes, Disorders with Similar Symptoms, Diagnosis, Treatment, Clinical Trails as well as Studies
Muralinath E. et al., Zenodo (CERN European Organization for Nuclear Research) (16 April 2026)
https://doi.org/10.5281/zenodo.19603042
- 4.
An Essential Parameters of Beta-D Mannosidosis Include Signs as well as Symptoms, Brain Image, Causes, Disorders with Similar Symptoms, Diagnosis, Treatment, Clinical Trails as well as Studies
Muralinath E. et al., Zenodo (CERN European Organization for Nuclear Research) (16 April 2026)
https://doi.org/10.5281/zenodo.19603043
- 5.
Phenotype variability in six new patients with beta-mannosidosis.
Olivas Madelyn et al., Molecular genetics and metabolism (1 January 2026)
https://pubmed.ncbi.nlm.nih.gov/42600418/
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.
Beta-Mannosidosis
Beta-mannosidosis is a very rare inherited condition in which the enzyme beta-mannosidase is missing or not working, so sugar-containing molecules build up inside cells. Features vary widely and can include intellectual disability, developmental delay, hearing loss, speech difficulties and recurrent infections. There is no specific treatment, so care focuses on supporting development, hearing, speech and general health.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Beta-Mannosidosis is very rare and little research has been published, so this page includes research from every year, including case reports about individual patients. Case reports are marked, and describe one person's experience rather than tested results.
Most Recent Research
Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo-Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the world. Considering this, we developed probe-based qPCR tests and combined it with pedigree analysis to deepen the knowledge related to the distribution of both mutations in Brazilian Anglo-Nubian population. This study revealed, for the first time, that the mutation associated with Mucopolysaccharidosis IIID is segregating in our country, expanding the knowledge of the worldwide distribution of this disease-associated allele. Additionally, the combination of genotyping and pedigree analysis enabled the estimation of additional high-confidence putative genotypes, contributing to the reduction of genotyping costs and highlighting a putative pathway associated with the introduction/dissemination of the Mucopolysaccharidosis IIID-associated allele in Brazil. These results can be considered as an initial basis for the proposition of a program to control/eradicate mutations associated with genetic diseases in Brazilian goat populations.
Common Questions
What is Beta-Mannosidosis?
Beta-mannosidosis is a very rare inherited condition in which the enzyme beta-mannosidase is missing or not working, so sugar-containing molecules build up inside cells. Features vary widely and can include intellectual disability, developmental delay, hearing loss, speech difficulties and recurrent infections. There is no specific treatment, so care focuses on supporting development, hearing, speech and general health.
How many clinical trials are available for Beta-Mannosidosis?
No clinical trials are currently indexed for Beta-Mannosidosis. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Beta-Mannosidosis come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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