Fucosidosis

Fucosidosis
Classification and external resources
Fucose
ICD-10	E 77.1
ICD-9	271.8
OMIM	230000
DiseasesDB	29471
MeSH	D005645

Fucosidosis, also called alpha-l-fucosidase deficiency,^[1] is a rare autosomal recessive^[2] lysosomal storage disease^[3] in which the enzyme fucosidase is not properly used in the cells to break down fucose.^[4]^:538 This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome. When the enzyme is absent, sugar chains accumulate and eventually lead to the clinical features of fucosidosis. The symptoms of this disorder may progress in degrees of severity over time.

Focosidosis 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 1, by Carrit and co-workers, in 1982.

1 Types
2 See also
3 References
4 External links

Types

There are two different types of fucosidosis, Type I and Type II, characterized by the age of onset and by the types of physical and mental manifestations of the disorder.

Type I typically appears in the first three to 18 months of life. Symptoms include coarsening of facial features, a large liver, spleen and/or heart, and abnormal bone deformities. Cherry red spots may be present on the surface of the eye. Mental retardation and seizures are also present. Patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year.

Type II patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat.^[5] The disease often appears between 12 and 24 months of life. Affected children usually have mild coarsening of facial features, abnormal bone deformities, mental retardation, and an enlarged liver, spleen and/or heart. Twisted blood vessels within the membrane covering of the eye and inner eyelid are characteristic features of Type II Fucosidosis.

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 230000
^ Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS (1991). "Fucosidosis revisited: a review of 77 patients". American journal of medical genetics 38 (1): 111–31. doi:10.1002/ajmg.1320380125. PMID 2012122.
^ Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B (1997). "Fucosidosis: genetic and biochemical analysis of eight cases". Journal of medical genetics 34 (2): 105–10. doi:10.1136/jmg.34.2.105. ISSN 0022-2593. PMC 1050861. PMID 9039984. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050861.
^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Schoonderwaldt HC, Lamers KJ, Kleijnen FM, van den Berg CJ, de Bruyn CH (1980). "Two patients with an unusual form of type II fucosidosis". Clinical genetics 18 (5): 348–54. doi:10.1111/j.1399-0004.1980.tb02295.x. ISSN 0009-9163. PMID 7460371.