What is Fucosidosis Disease?
Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene causes fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. The enzyme plays a role in the breakdown of complex sugars in the body. The disorder is characterized by lysosomal accumulation of a variety of glycoproteins, glycolipids, and oligosaccharides that contain fucose moieties. The deficiency of the enzyme alpha-L-fucosidase, which is used to metabolize complex compounds in the body (fucose-containing glycolipids and fucose- containing glycoproteins). With the lack of this enzyme activity, the result is incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds accumulate in various parts of the body and begin to cause malfunction in cells, and can eventually cause cell death. Brain cells are especially sensitive to this buildup.
The disease has three different types. Type 1 and 2 are considered severe, and Type 3 being a mild disease. Symptoms are highly variable with mild cases being able to live to within the third or fourth decade. Type 1 and 2 are both linked with mental retardation. Severe cases can develop life-threatening complications early in childhood. Because the major accumulating glycoconjugate in fucosidosis patients is the blood group H-antigen, it is intriguing to speculate, but the evidence is not clear at this time, that blood type may affect the course of the disease.
Type 1usually begins somewhere in the first three to 18 months of age and in considered the most severe of the three types. Symptoms include:
Type 2appears when a child is around 18 months of age and in considered milder than Type 1 but still severe. Symptoms include:
Type 3appears around 1–2 years of age and is considered mild.
Sign & Symptoms?
Other results are progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease, and coarsening of facial features. Fucosidosis is the consequence of faulty degradation of both sphingolipids and polysaccharides. Major accumulation of the H-antigen (a member of the ABO blood group antigens), a glycolipid, is seen primarily in the liver of fucosidosis patients.
How common is the disease?
The disease itself is extremely rare (less than 100 documented cases) only affecting 1:2,000,000, with most cases being occurring in Italy, Cuba, and the southwest U.S.
What are the genes related to fucosidosis?
It is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34.
How do people inherit Fucosidosis?-
Fucosidosis is an autosomal recessive disorder, which means that both parents have the mutation and there is a 25% chance of each child having fucosidosis.
How to Fucosidosis diagnosed?
A special urine test is available to check for any partially broken-down- sugars. If they are present, a skin or blood sample will be taken to test for below- normal amounts of alpha-fucosidase.
When to contact a Medical Professional?
When a diagnosis Fucosidosis of is made.When pregnancy is planned in a family with history of Fucosidosis disease.
Who to contact for more information?
The Department of Health Research and Indian Council of Medical Research have constituted a National Task Force to perform a multicentric collaborative study at different research institutes across the country. Further information can be found at http://www.icmrmetbionetindia.org/task- force-disoredrs.php Lysosomal Storage Society of India - LSDSS http://www.lsdss.org
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Dr Madhulika Kabra
All India Institute of Medical Sciences,New Delhi