Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Fucosidosis is an inherited disease that results when an enzyme that breaks down fucose, a sugar molecule, is missing or not working correctly. When this enzyme is missing, fucose builds up in a part of cells called lysosomes. Lysosomes are small sacs in cells whose job it is to break down these sugars. Because these sugars accumulate in lysosomes, fucosidosis is classified as a lysosomal storage disease. This disorder affects many different parts of the body and causes problems in the skin, heart, liver, spleen, bones, muscles, brain, and spinal cord (central nervous system). There are two subtypes of the disease, the infantile type I and the juvenile type II forms. Type I, the rarer form, is more severe and symptoms begin earlier and progresses a lot faster than type II.

Who

Children with fucosidosis often show the signs and symptoms of this disease pretty early in life. Children with fucosidosis type I start to have symptoms of the disease as early as 6 months of age, while those with fucosidosis type II take longer. A large percentage of the cases seem to come from Southern Italy, although the disease is very rare.

Signs and Symptoms

• Skin: a red rash appearing over most of the body. This rash, known as angiokeratoma corporis diffusum, is often associated with fucosidosis type II. Some might also have dry and coarse skin.
  
• Heart, liver, spleen: children with this disease might develop a large heart and therefore need to see a cardiologist. Some might also have a large liver and spleen and this can cause a large and bloated abdomen.
  
• Bones: Some children with fucosidosis have abnormal or delayed growth of their bones, leading to poor growth and coarse facial features.
  
• Muscles: Most patients will have tremors and spasticity of their arms, hands and legs. Some also have a large tongue.
  
• Brain and spinal cord: Most children with this disease will slowly have deterioration or regression of their cognitive and motor ability, eventually leading to severe learning problems and losing the ability to use their muscles. Some will also have seizures.

Possible Causes

Fucosidosis is a genetic disease and is inherited in an autosomal recessive manner. This means that an affected child received a copy of the gene responsible for this disorder from each parent. Each parent is a carrier of the gene for fucosidosis; they would have one copy of the gene with a genetic change (mutation) and a second copy that functions normally. The gene responsible for this disorder, named FUCA, makes a protein whose normal function is to break down fucose, a sugar molecule in the body.

Diagnosis

Diagnosis can be made by measuring the activity of fucosidase, the enzyme that is missing in the affected child, in the blood, urine, or skin cells. For this, a blood test, a urine sample, or a skin biopsy (where a small piece of skin is removed and analyzed) is needed.

Treatment

There is currently no treatment for this disease, but the gene responsible has been identified and research is being conducted to learn more about the disease and how to cure it. Researchers have animal models for the disease and an early experiment with bone marrow transplantation in one of these animal models seemed to increase the amount of the missing enzyme in the brain, leading to less severe brain problems.

Prognosis

Type I fucosidosis is more severe and progresses faster than type II. Children with this subtype often do not survive after 10 years of age. The second type of the disease has a slower progression and slower deterioration of brain function. They often live into their 20s or 30s and there have been cases of those living into their 40s.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Society for Mucopolysaccharide Diseases
International support, with different websites for patients in different countries to get connected. Has good information, booklets for children and families with mucopolysaccharide diseases (closely related to fucosidosis). On the USA website link, there are regional events posted where parents and families of the affected child can attend to learn more about the disease and to network for support.

Lysosomal Learning
Website has a lot of information about lysosomal storage disease and where to find a treatment center and to learn more about ongoing research involving this type of disease. ISMRD.

International Advocate for Glycoprotein Storage Disease
Has private support for parents, via emails, and also a forum for discussions.

ClinicalTrials.gov
There is a study currently recruiting patients with lysosomal storage disease for a bone marrow/cord blood transplant study. This is also a good website to keep handy whenever one searches for information about clinical trials conducted in the US on different diseases.

Google Search for Fucosidosis

References and Sources

Provenzale M (1995). Neuroradiologic Findings in Fucosidosis, a Rare Lysosomal Storage Disease. AJNR 16:809–813, Apr. 0195-6108/95/1604–0809 Wilems P (1991). Fucosidosis revisited: a review of 77 patients. Am J Med Genet. Jan;38(1):111-31. OMIM. Fucosidosis. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230000