Inherited metabolic disorders
Alpha-mannosidosis
Alpha-mannosidosis is a MAN2B1-related lysosomal disorder in which certain sugar-containing molecules accumulate. It can affect hearing, learning, bones, movement and immunity, with widely varying severity.
Other names and abbreviations
MAN2B1 deficiency · alpha-mannosidase deficiency · Alpha-D-mannosidosis · Lysosomal alpha-mannosidase deficiency
Where transplant fits
Allogeneic transplantation has been used in selected severe cases, usually with greater potential before major complications develop. Evidence is limited and does not establish that transplant will reverse every neurologic or skeletal feature.
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
- Features usually develop in childhood, but milder disease may be recognized later.
- Other treatment options
- Velmanase alfa enzyme replacement treats specified non-central-nervous-system manifestations where approved. Hearing, developmental, orthopedic and infection care remain important.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
Enzyme replacement and transplantation have different benefits and risks. Neither existing small cohorts nor biochemical improvement alone establishes complete neurologic recovery.
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
- Alpha-Mannosidosis
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.
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Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
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