Fucosidosis
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ICD9 = | ICDO = | OMIM = 230000 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D005645 | 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.
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