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Fucosidosis




Fucosidosis
Classification & external resources
Fucose
ICD-10 E77.1
ICD-9 271.8
OMIM 230000
DiseasesDB 29471
MeSH D005645

Additional recommended knowledge

Fucosidosis is an autosomal recessive metabolic disorder in which fucosidase is not properly used in the cells to break down fucose.

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.

 


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Fucosidosis". A list of authors is available in Wikipedia.
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