• 1: Home
• 2: MPS Diseases
  • 2.1: Overview of symptoms
  • 2.2: Overview of treatment
  • 2.3: Which are the MPS Diseases
    • 2.3.1: MPS I
    • 2.3.2: MPS II
    • 2.3.3: MPS III
    • 2.3.4: MPS IVA
    • 2.3.5: MPS IVB
    • 2.3.6: MPS VI
    • 2.3.7: MPS VII
    • 2.3.8: MPS IX
    • 2.3.9: ML I
    • 2.3.10: ML II and III
    • 2.3.11: ML IV
    • 2.3.12: Fucosidosis
      • 2.3.12.1: Brooke's Story
    • 2.3.13: Mannosidosis
    • 2.3.14: Sialic Acid Storage Disease
    • 2.3.15: MSD
    • 2.3.16: AGU
    • 2.3.17: Winchester
    • 2.3.18: Geleo Physic Dysplasia
  • 2.4: Personal stories
• 3: Fabry Disease
• 4: Advocacy Support
• 6: Fundraising
• 7: How Your Money Helps
• 8: Research
• 9: Information Resource
• 10: Kids Section
• 11: Events
• 12: Childhood Wood
• 13: Latest News
• 14: Downloads
• 15: Contact Us
• 16: Register a Sufferer
• 17: Become a Friend of MPS
• 18: LSD Collaborative
• 19: International Contacts
• 22: MPS House
• 27: CRB Checks
• 28: Links
• 29: Site Map
• 30: Terms and Conditions

Fucosidosis

Fucosidosis is a lysosomal storage disease which was first described by Dr. Durand and colleagues in 1966. It has some similarities to the mucopolysaccharide diseases.

What causes Fucosidosis?

Cells in our bodies are constantly being renewed and used materials must be broken down and excreted. Proteins called enzymes are essential in this process, but sometimes the genetic instructions for producing one of the enzymes are faulty. Fucosidosis takes its name from the enzyme which is defective - alpha-L-fucosidase. Without the enzyme, used materials cannot be completely broken down and remain stored in the body, causing progressive damage to cells. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.

How common is Fucosidosis?

The disease is very rare and to date fewer than one hundred cases have been reported worldwide. Around a third of these people are of Italian extraction. The UK MPS Society has four families with affected children as members. Fucosidosis also occurs in English springer spaniel dogs.

Inheritance of Fucosidosis

As Fucosidosis is a genetically inherited condition, all families of affected children should seek further information from their doctor or from a genetic counsellor before planning to have more children. There is a more detailed explanation of this complex subject in a booklet available from the MPS Society on the Pattern of Inheritance in MPS diseases. Please visit our Information Resource section.

Prenatal diagnosis

If you already have a child with Fucosidosis it is possible to have tests during a subsequent pregnancy to find out whether the baby you are carrying is affected. It is important to consult your doctor early in the pregnancy if you wish tests to be arranged.

How does Fucosidosis progress?

Fucosidosis will affect children differently; a minority will be severely affected, but in most cases change will be gradual and easier to adjust to. A very small number of children will die before the age of five, but the majority will live longer, some at least into their thirties.

Earlier reports divided the disease into two distinct types according to severity, but this division is now thought to be unnecessary. The disease has a range of symptoms but this does not mean that individuals with Fucosidosis will experience them all, or that he or she will be severely affected by them.

Further information

There is a detailed booklet on Fucosidosis produced by the MPS Society in collaboration with parents and doctors drawing on their experience and with reference to medical literature. The booklet includes detailed information on the presentation and clinical management of the disease and treatment options available. Please visit our Information Resource section.

Personal story