Fucosidosis

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

WikiDoc Resources for Fucosidosis
Articles
Most recent articles on Fucosidosis Most cited articles on Fucosidosis Review articles on Fucosidosis Articles on Fucosidosis in N Eng J Med, Lancet, BMJ
Media
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Evidence Based Medicine
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Clinical Trials
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Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Fucosidosis NICE Guidance on Fucosidosis NHS PRODIGY Guidance FDA on Fucosidosis CDC on Fucosidosis
Books
Books on Fucosidosis
News
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Commentary
Blogs on Fucosidosis
Definitions
Definitions of Fucosidosis
Patient Resources / Community
Patient resources on Fucosidosis Discussion groups on Fucosidosis Patient Handouts on Fucosidosis Directions to Hospitals Treating Fucosidosis Risk calculators and risk factors for Fucosidosis
Healthcare Provider Resources
Symptoms of Fucosidosis Causes & Risk Factors for Fucosidosis Diagnostic studies for Fucosidosis Treatment of Fucosidosis
Continuing Medical Education (CME)
CME Programs on Fucosidosis
International
Fucosidosis en Espanol Fucosidosis en Francais
Business
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Experimental / Informatics
List of terms related to Fucosidosis

Overview

Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break 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.

External links

• Pediatrics article
• Lysosomal Learning site

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