Mucopolysaccharidosis type 6 (MPSVI)

What is MPSVI?

The mucopolysaccharidoses are a group of lysosomal storage disorders that share similar features. Your body is made up of trillions of individual cells; each cell contains a small part called the lysosome. This is primarily responsible for breaking down and recycling worn out cell components. Inside the lysosome are enzymes which perform this very important housekeeping role. In the mucopolysaccharidoses the necessary enzymes are not working effectively, allowing these products to build up and become stored in very specific areas of your body.

There are many different enzymes in your lysosomes, and deficiencies of each enzyme will cause a different disease. All of these different diseases together are called lysosomal storage disorders.

MPSVI is also referred to as Maroteaux-Lamy syndrome.

How will this affect me?

In MPSVI the cells most commonly affected are in the connective tissue found throughout your body and in particular in your skeleton.

This means you may experience or be at risk of the following:

• corneal clouding and sight impairment
• hearing loss
• significant skeletal abnormalities including short stature, excessive and joint pains
• heart valve abnormalities
• breathing difficulties – airway obstruction, sleep apnoea and restrictive lung disease
• poor teeth
• enlarged liver/spleen
• hernias
• recurrent respiratory tract infections
• carpel tunnel syndrome

If you have any questions about the effects and progression of the disease please do ask your doctor or specialist nurse.

Is there any treatment?

MPSVI specific treatment is currently available in the form of enzyme replacement therapy (ERT). All medication is supplied to you directly at home using a specialist medical homecare delivery company.

Enzyme replacement therapy (ERT)

Enzyme replacement therapy is an intravenous infusion usually administered every week. It provides you with extra enzyme that will supplement your own and help to reduce the amount of stored material in your cells. This is initially administered in hospital but after that you receive this treatment at home with a homecare nurse who will teach you how to manage your infusions for yourself when you are ready.

You can only receive this treatment for your MPSVI if you attend one of the UK national referral centres at least once per year for regular assessment and review.

How did I get MPSVI?

Your disease is a genetic condition, which means that you inherited it from your parents. There are instructions in your genes for making lysosomal enzymes and a small change in the DNA can be enough to stop the enzyme from working properly.

You have two copies of every gene, having received one from each parent. To be affected by MPSVI you need to have two copies of the gene with the DNA change on it – one from each parent. Only receiving one affected copy means you are a carrier and will not be affected.

Please do talk to your doctor or specialist nurse who can explain this in more detail.

What do I need to do next?

• Do ask your doctor or nurse for more information.
• Do attend your regular appointments with the lysosomal disorders team so that we can ensure you receive the most appropriate care for your current difficulties and can keep you informed of any new developments.

You may find it helpful to contact your patient support group:

• MPS Society website (opens in a new tab)
  Tel: 0345 3899901
  Email MPS Society

Contact information

Lysosomal Disorders Unit (LDU)
Box 135
Addenbrooke’s Hospital
Hills Road
Cambridge
CB2 0QQ

Tel: 01223 274634
Email the LDU team.

Please note: the department is open Monday to Friday 08:30 (8:30am) to 17:00 (5pm). If you are unwell outside of these hours you should seek medical advice from your local healthcare team. If your emergency doctor needs specific advice, they should call the Contact Centre on 01223 245151 and ask for the metabolic consultant on call.