Mucopolysaccharidosis (MPS) is a lysosomal storage disorder which can occur in children and adults. The age of onset can vary and depends on which type of the disorder the patients has. Mucopolysaccharidosis is a progressive disorder in which the symptoms increase over the course of life. This is due to an increasing storage of mucopolysaccharides in the organs.   

Mucopolysaccharidoses is a group of disorders which can be classified in different types. Each type has its own clinical features.  

• MPS I, syndroom van Hurler-Scheie.
• MPS II, syndroom van Hunter.
• MPS III, syndroom van Sanfilippo A, B, C, D.
• MPS IV, syndroom van Morquio A en B.
• MPS VI, syndroom van Maroteaux-Lamy.
• MPS VII, syndroom van Sly.

Mucopolysaccharidoses occur at an estimated frequency of 1 in 60,000, but possibly more frequently. How common depends on the type.

For example:

Mucopolysaccharidosis type I occurs in 1 in 84,000 live births.
Mucopolysaccharidosis type II occurs in 1 in 150,000 live births.
Mucopolysaccharidosis type VI occurs in 1 in 600,000 live births.

Mucopolysaccharidose is a inherited lysosomal storage disorders in which the mucopolysaccharides can not be broken down properly in the body. This dysfunction is caused by an inherited deficiency of certain enzymes which are needed to break down the mucopolysaccharides. As a result the mucopolysaccharides will accumulate in the cells which will then lead to damage of the organs. 

The symptoms of mucopolysaccharidoses differ per type. The most common symptoms are: 

If the doctor suspects that you or your child has mucopolysaccharidosis, he or she will do a number of tests to make the diagnosis. The following tests may be involved:

Mucopolysaccharidosen are being treated with enzym replacement therapy (ERT). With ERT the missing enzym is administered to the patient through an IV. The enzyme will slow down the accumulation of mucopolysaccharides in the cells. Patients receive this treatment every week for a couple of hours.  

Patients with mucopolysaccharidosis will need to be followed and treated throughout their lives. Because different organs are affected in  mucopolysaccharidosis, the patient will see different specialists.   

Our scheduling coordinator will schedule appointments for you. To minimize hospital visits for you and/or your child, we will try to schedule appointments with different specialists on the same day whenever possible. The center has a day clinic with specialized nurses, who supervise the enzyme replacement therapy treatment.

Please also visit our team page to our specialists.