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.
In the Vinony graph
Vinony's link graph records 33 inbound references to fucosidosis, and connects out to lysosomal storage disease, International Standard Book Number and enzyme.
It is catalogued under topics including Autosomal recessive disorders, Glycoprotein metabolism disorders and Rare diseases.
Vinony links it to 9 Wikipedia language editions.
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
Wikidata facts
- Instance of
- rare disease
Show 6 more facts
- NCI Thesaurus ID
- C61274
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_349
- ICD-9-CM
- 271.8
- on focus list of Wikimedia project
- WikiProject Medicine
- Commons category
- Fucosidosis
via Wikidata · CC0
~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.