Fucosidosis
| Fucosidosis | |
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| Fucose | |
| ICD-10 | E77.1 |
| ICD-9 | 271.8 |
| OMIM | 230000 |
| DiseasesDB | 29471 |
| MeSH | D005645 |
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US National Guidelines Clearinghouse on Fucosidosis
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Patient resources on Fucosidosis Discussion groups on Fucosidosis Patient Handouts on Fucosidosis Directions to Hospitals Treating Fucosidosis Risk calculators and risk factors for Fucosidosis
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Causes & Risk Factors for Fucosidosis |
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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
Template:Endocrine, nutritional and metabolic pathology
fi:Fukosidoosi