Fucosidosis is inherited as an autosomal recessive genetic trait. Fucosidosis is a really uncommon hereditary lysosomal storage disease characterized by a deficiency of the enzyme alpha-L-fucosidase. This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Low levels of the alpha-L-fucosidase enzyme lead to the abnormal accumulation of certain fucose-containing complex compounds (i.e., glycosphingolipids, glycolipids, and glycoproteins) in lots of tissues of the body.
There are two types of Fucosidosis (Type 1 and Type 2), determined mainly by the severity of the symptoms. In type 1, rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal 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. The symptoms of Fucosidosis Type 1, the most severe form of the disease, may become apparent as early as six months of age.
Symptoms may comprise progressive deterioration of the brain and spinal cord, mental retardation, loss of previously obtained intellectual skills, and increase retardation leading to short stature. Other physical findings and features become evident over time including multiple deformities of the bones, coarse facial features, and enlargement of the heart enlargement of the liver and spleen, and/or episodes of uncontrolled electrical activity in the brain (seizures). Additional symptoms may include increased or decreased perspiration and/or malfunction of the gallbladder and/or salivary glands. Fucosidosis Types 1 and 2 may be found in the same family.
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