Inherited metabolic disorders
Fucosidosis
Also called: alpha-fucosidase deficiency · alpha-L-fucosidase deficiency · FUCA1 deficiency
What a donor has to do with this
A transplant is not a standard part of treating this condition. It is used rarely, in particular situations, and most people diagnosed with it will not have one.
This is our reading of published transplant guidelines for this condition, not a measurement of how many people need a donor. Where a source actually counted donors, the figure and the people it counted are shown further down. Where none did, we say so rather than estimate.
What the evidence says
- Who it affects
- Typical onset/diagnosis: manifestations begin in infancy or childhood in either sex. Evidence: U.S. NIH GARD synthesis (updated 2026); no markedly enriched population was identified.
- Treatments other than a transplant
- Supportive neurologic, respiratory, nutritional, and rehabilitative care — standard noncurative management — multiple regions — No approved disease-modifying product.
- If a transplant is used, the cells come from
- bone marrow: used in the opened unrelated-donor case report; mobilized peripheral blood stem cells: not reported in the opened disease-specific evidence; umbilical cord blood: not reported in the opened disease-specific evidence; dominance: bone marrow was the only graft source reported in the opened case evidence
- How often the donor was unrelated
- Not reported. No source we could read states this for this condition, so we do not give a number. An estimate here would be a guess dressed as evidence.
Where this gets complicated
Evidence consists of isolated cases and tiny series, not a reproducible modern standard-of-care cohort.; Historical type 1/type 2 labels are now often treated as a severity spectrum and should not be used as rigid transplant strata.
“Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation”
It describes what teams consider in general. It cannot say what applies to any one person. Read the source.
We are not asking you to register on this page
An unrelated donor is not a usual part of treating this condition, so it would be dishonest to use this page to ask you to register. Other conditions in the library are a different story.
Related conditions
Others in inherited metabolic disorders. They are genuinely different diseases with different treatments — the group name is not a diagnosis.
Where this came from
- Fucosidosis — NIH NCATS GARD, updated 2026-06
- EBMT Handbook, Chapter 91: Inborn Errors of Metabolism and Osteopetrosis — EBMT/Springer, 2024-04-11
- Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation — Bone Marrow Transplantation / Nature, 2001-05-04