Fucosidosis Detailed Information

Fucosidosis is a very uncommon inherited lysosomal storage disease characterized by a deficiency of the enzyme alpha-L-fucosidase. It is estimated to affect less than 1:2,000,000. There are two types of fucosidosis. In type 1, fast psychomotor regression, severe and speedily progressing neurologic signs, high sodium and chloride excretion in the sweat, and grave outcome before the sixth year. 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 , and dysostosis multiplex.

In type 2, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. Type II Fucosidosis presents between 12 and 24 months of life. Individuals generally have gentle coarsening of facial features, dysostosis multiplex, mental retardation and organomegaly. In addition, angiokeratomas may be present. Another feature of type II Fucosidosis is the presence of twisted blood vessels within the membrane covering of the eyeball and inner eyelid. The symptoms of Fucosidosis Type 1, the most severe form of the disease, may become evident as early as six months of age.

Symptoms may involve progressive deterioration of the brain and spinal cord (central nervous system), mental retardation, loss of previously obtained intellectual skills, and increase retardation leading to small stature. Other physical findings and features become apparent over time including multiple deformities of the bones, coarse facial features, enlargement of the heart (cardiomegaly), enlargement of the liver and spleen (hepatosplenomegaly), and/or episodes of uncontrolled electrical activity in the brain (seizures). Additional symptoms may involve increased or decreased perspiration and/or malfunction of the gallbladder and/or salivary glands.

In Fucosidosis Type 2, deterioration of the central nervous system becomes clear in the first few years of life; symptoms growth more gradually than in Type 1. Other symptoms may be alike to but milder than those of Type 1. Fucosidosis Types 1 and 2 may be found in the same family. There is no heal to prevent the progression of symptoms of Fucosidosis and treatment is aimed at addressing the individual problems as they arise. Bone marrow transplant has been trialed as an experimental therapy but there are no conclusive results on the long term benefits.