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Coverage: 2015-01-01 onwards, 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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Fucosidosis: 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.
Early Hematopoietic Stem Cell Transplantation in Type 1 Fucosidosis: Reversal of Central Tegmental Tract Abnormalities.
Palaz Mehmet et al., Pediatric transplantation (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42888855/
- 2.
Angiokeratoma, Dysostosis Multiplex, and Hypomyelination in a Child with Developmental Delay: Think of Fucosidosis.
Gowda Vykuntaraju K et al., Annals of Indian Academy of Neurology (24 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42809625/
- 3.
Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum.
Nikam Rahul et al., Cureus (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42603069/
- 4.
An Essential Parameters of Fucosidosis Include History of the Disease, Other Lysosomal Storage Disease, Symptoms as well as Clinical Features, Treatment as well as Therapeutic Options
Muralinath E. et al., Zenodo (CERN European Organization for Nuclear Research) (14 April 2026)
https://doi.org/10.5281/zenodo.19564121
- 5.
An Essential Parameters of Fucosidosis Include History of the Disease, Other Lysosomal Storage Disease, Symptoms as well as Clinical Features, Treatment as well as Therapeutic Options
Muralinath E. et al., Zenodo (CERN European Organization for Nuclear Research) (14 April 2026)
https://doi.org/10.5281/zenodo.19564122
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.
Fucosidosis
Fucosidosis is a very rare inherited lysosomal storage disorder caused by a shortage of the enzyme alpha-L-fucosidase, so sugar-containing substances build up in cells. It can affect the brain and nerves, growth, bones, skin blood vessels and the liver and spleen, and severity varies widely. Care is supportive and involves several specialists, and stem cell transplantation has been used in some children.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
There is not much recent research on Fucosidosis, so this page includes research published since 2015. Most pages on RareWays start at 2020.
Most Recent Research
BACKGROUND: Fucosidosis is an ultra-rare lysosomal storage disorder caused by alpha-L-fucosidase deficiency, leading to progressive neurodegeneration and multisystem involvement. Hematopoietic stem cell transplantation (HSCT) has emerged as a potential disease-modifying therapy, particularly when performed early in the disease course. However, neuroradiological reversibility after HSCT remains insufficiently documented. METHODS: We report a male infant diagnosed with Type 1 fucosidosis at 6 months of age based on enzymatic and genetic analyses. Brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) demonstrated characteristic abnormalities, including central tegmental tract involvement. The patient underwent allogeneic HSCT at 14 months of age and was followed clinically and radiologically. RESULTS: Following HSCT, the patient demonstrated stabilization and gradual improvement of neurological functions. Follow-up neuroimaging revealed marked regression of white matter abnormalities and reversal of central tegmental tract hyperintensities. Developmental progression improved after transplantation, and no major transplant-related neurological complications occurred. CONCLUSION: Early HSCT was accompanied by clinical improvement and resolution of central tegmental tract abnormalities in this patient. These imaging changes may help assess treatment response, though larger cohorts and longer follow-up are needed to evaluate long-term outcomes.
Common Questions
What is Fucosidosis?
Fucosidosis is a very rare inherited lysosomal storage disorder caused by a shortage of the enzyme alpha-L-fucosidase, so sugar-containing substances build up in cells. It can affect the brain and nerves, growth, bones, skin blood vessels and the liver and spleen, and severity varies widely. Care is supportive and involves several specialists, and stem cell transplantation has been used in some children.
How many clinical trials are available for Fucosidosis?
RareWays currently indexes 6 clinical trials for Fucosidosis. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Fucosidosis 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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