fucosidosis
Sign in to saveAlso known as Alpha-L-Fucosidase deficiency, A-fucosidase deficiency, Fucosidosis (disorder), alpha fucosidase deficiency, Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982.
Key facts
- Medical condition (new).name
- Fucosidosis
- Medical condition (new).synonyms
- Alpha-L-fucosidase deficiency
- Medical condition (new).image
- L-Fucose chemical structure.png
- Medical condition (new).caption
- Fucose
- Medical condition (new).width
- 120
via Wikipedia infobox
Research
371 papers- Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences · 2025
- Fucosidosis.1993
- Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.Genes · 2020
- [Fucosidosis].Ryoikibetsu shokogun shirizu · 1998
- [Fucosidosis].Ryoikibetsu shokogun shirizu · 2001
via PubMed
~5 min read
Encyclopedic overview
9 sectionsContents
- Symptoms and signs
- Cause
- Diagnosis
- Treatment
- History
- Other forms
- See also
- References
- External links
Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982.
== Symptoms and signs == Symptoms are highly variable, with mild cases being able to live to within the third or fourth decade.
Excerpted from Wikipedia’s “fucosidosis” article, available under the CC BY-SA 4.0 licence.