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Fucosidosis is caused by a deficiency
in the enzyme alpha-fucosidase. There are two different types of
Fucosidosis. They are characterized by the age of onset and type of physical
and mental manifestations. Type I usually presents in the first 3-18 months
of life with features typical of lysosomal storage diseases including coarsening
of facial features, organomegaly (large liver, spleen and/or heart), and
dysostosis multiplex (abnormal bone formation that is found in multiple
bones of the body) seen on x-ray. Cherry red spots may be present on ophthalmology
evaluation. Cherry red spots are spots on the retina that have a storage
of sugar chains, causing the remainder of the healthy retina to look brighter.
Mental retardation and seizures are also present. Additionally, sweat chloride
may be elevated. |