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Fucosidosis presents with progressive mental retardation and neurologic deterioration caused by a deficiency of lysosomal alpha-fucosidase, an enzyme involved in the cleavage of fucose from large branched sugar molecules. The clinical spectrum is varied from mild to severe including coarsening of facial features, hepatosplenomegaly, and dysostosis multiplex. Cherry red spots of the macula may be present on ophthalmology evaluation. Sweat chloride may be elevated. The milder form may include angiokeratomas and the presence of twisted blood vessels within the membrane covering of the eyeball and inner eyelid.
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