Fucosidosis

Society for Mucopolysaccharide Diseases
MPS House, Repton Place, White Lion Road, Amersham, Buckinghamshire, HP7 9LP, UK
Tel: 0845 389 9901 Fax: 0845 389 9902
National Registered Charity No. 287034

Fucosidosis

Introduction
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 and so affected children and adults and their families are welcome to join the MPS Society.

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.

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.

Is there a cure?
At present there is no cure for Fucosidosis, but the gene responsible has been located and research may find a way to treat the patients in the future.

How does the disease 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 your child will experience them all, or that he or she will be severely affected by them.

Click here to read Brooke's story.