Fucosidosis is a rare lysosomal storage disorder[2] in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme.[3] 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,[4] by Carrit and co-workers, in 1982.
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Fucosidosis". www.orpha.net. Retrieved 11 April 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^Stepien, Karolina M.; Ciara, Elżbieta; Jezela-Stanek, Aleksandra (2020-11-22). "Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series". Genes. 11 (11): 1383. doi:10.3390/genes11111383. ISSN 2073-4425. PMC 7700486. PMID 33266441.
in 1982. Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene cause fucosidosis. The FUCA1...
ganglia disease and seizures) Dyggve–Melchior–Clausen syndrome Fucosidosis type 1 Fucosidosis type II Gangliosidosis generalized GM1 (type 1) Gangliosidosis...
disease (a rare leukodystrophy). They are also seen in the context of fucosidosis. Rosenthal fibres can also be seen in craniopharyngioma. The fibers are...
disorders that generally are not classified as sphingolipidoses include fucosidosis, Schindler disease, and Wolman disease. Lipid storage diseases can be...
important. Deficiency in alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage disorder characterised by rapid neurodegeneration...
lysosomal diseases, including galactosialidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, and sialidosis, amongst other diseases. It is a longitudinal...
myoclonus along with palliative, supportive, and rehabilitative care. Fucosidosis Mucolipidosis James, William D.; Elston, Dirk; Treat, James R.; Rosenbach...
et al. (1988). "Molecular biology of the alpha-L-fucosidase gene and fucosidosis". Enzyme. 38 (1–4): 45–53. doi:10.1159/000469189. PMID 2894306. Cordero...
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