Inherited metabolic disorders
Fucosidosis
Fucosidosis is a FUCA1-related lysosomal enzyme disorder. Accumulated molecules can affect development, movement, breathing, hearing, skin and the skeleton; severity varies.
Other names and abbreviations
alpha-fucosidase deficiency · alpha-L-fucosidase deficiency · Alpha-L-fucosidase deficiency · FUCA1 deficiency
Where transplant fits
Allogeneic transplantation has been attempted in very few patients and may be considered before major neurologic deterioration. It is not an established routine treatment with predictable benefit.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Usually presents during childhood, with a range of severity and progression.
- Other treatment options
- Developmental, respiratory, nutritional, mobility and symptom-directed care address the person’s needs. Transplant decisions require specialist assessment of the limited evidence.
- Cells used for transplantation
- Donor stem cells in exceptional specialist treatment; the small evidence base does not establish a preferred graft source.
Why the details matter
Case reports cannot establish a reliable success rate or prove reversal of existing brain injury. Historical type I and II labels describe a spectrum rather than a universal treatment rule.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Fucosidosis
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook · 2024-04-11
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
Donate to JBFKeep learning
Why matching is hard: an interactive leukemia story
More in inherited metabolic disorders. Sharing a group does not mean sharing a treatment plan.
