Fucosidosis

Fucosidosis

Infobox_Disease
Name = PAGENAME


Caption = Fucose
Width = 120
DiseasesDB = 29471
ICD10 = ICD10|E|77|1|e|70
ICD9 = ICD9|271.8
ICDO =
OMIM = 230000
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D005645

Fucosidosis, also called alpha-l-fucosidase deficiency,OMIM|230000] is a rare autosomal recessive [cite journal |pmid=2012122 |year=1991 |author=Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS |title=Fucosidosis revisited: a review of 77 patients |volume=38 |issue=1 |pages=111–31 |doi=10.1002/ajmg.1320380125 |journal=American journal of medical genetics] lysosomal storage disease [cite journal |pmid=9039984 |year=1997 |author=Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B |title=Fucosidosis: genetic and biochemical analysis of eight cases |volume=34 |issue=2 |pages=105–10 |issn=0022-2593 |pmc=1050861 |journal=Journal of medical genetics] in which the enzyme fucosidase is not properly used in the cells to break down fucose.

Types

There are at least two types of fucosidosis.
* In type 1, 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.
* In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. [cite journal |pmid=7460371 |year=1980 |author=Schoonderwaldt HC, Lamers KJ, Kleijnen FM, van den Berg CJ, de Bruyn CH |title=Two patients with an unusual form of type II fucosidosis |volume=18 |issue=5 |pages=348–54 |issn=0009-9163 |journal=Clinical genetics]

External links

*cite journal |author=Kousseff BG, Beratis NG, Strauss L, "et al" |title=Fucosidosis type 2 |journal=Pediatrics |volume=57 |issue=2 |pages=205–13 |year=1976 |pmid=814528 |doi= |url=http://pediatrics.aappublications.org/cgi/content/abstract/57/2/205
* [http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_fucosidosis1.asp Lysosomal Learning site]
*RareDiseases|6474|Fucosidosis type 1
*RareDiseases|6473|Fucosidosis

References


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