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Fucosidosis
Condition Overview: Fucosidosis is an extremely rare inherited 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 many tissues of the body. Many researchers believe there are two types of Fucosidosis (i.e., Type 1 and Type 2), determined mainly by the severity of the symptoms. Other scientists theorize there are three types, with the age of onset and the disease severity being the determining factors.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 include progressive deterioration of the brain and spinal cord (central nervous system), mental retardation, loss of previously acquired intellectual skills, and growth retardation leading to short stature. Other physical findings and features become apparent over time including multiple deformities of the bones (dysostosis multiplex), 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 include 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 apparent in the first few years of life; symptoms progress more slowly than in Type 1. Other symptoms may be similar to but milder than those of Type 1. The most noticeable feature distinguishing Fucosidosis Types 1 from Type 2 is the appearance of horny or warty growths (angiokeratomas) on the skin in those individuals with Type 2. Fucosidosis Types 1 and 2 may be found in the same family. Many researchers believe that there is no clear distinction between the three proposed types of Fucosidosis and that they actually represent varying clinical expressions of the disorder rather than distinct subtypes. Fucosidosis is inherited as an autosomal recessive genetic trait. . |
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