• 1: Home
• 2: MPS Diseases
  • 2.1: Definition
  • 2.2: Which are the MPS Diseases
    • 2.2.1: Hurler Disease
    • 2.2.2: Hunter Disease
    • 2.2.3: Sanfilippo Disease
    • 2.2.4: Morquio Disease
    • 2.2.5: Maroteaux-Lamy Disease
      • 2.2.5.1: Oliver's Story
    • 2.2.6: Sly Disease
    • 2.2.7: Mucolipidosis I
    • 2.2.8: Mucolipidosis II and III
    • 2.2.9: Mucolipidosis IV
    • 2.2.10: Fucosidosis
    • 2.2.11: Mannosidosis
    • 2.2.12: Sialic Acid Storage Disease
    • 2.2.13: MS Deficiency
    • 2.2.14: AGU
    • 2.2.15: Winchester Syndrome
  • 2.3: Causes of MPS
  • 2.4: Inheritance
  • 2.5: Effects
  • 2.6: Cure
  • 2.7: What is the incidence?
  • 2.8: Treatment Update
  • 2.9: Personal Stories
• 3: Fabry Disease
• 4: Advocacy Support
• 5: Information Resource
• 6: About Us
• 7: Childhood Wood
• 8: Research and Therapies
• 9: Events
• 10: Latest News
• 11: Fundraising
• 12: Kids Section
• 13: Register a Sufferer
• 14: Downloads
• 15: Contact Us
• 16: Become a Friend of MPS
• 17: International Contacts
• 18: Links
• 20: Site Map
• 22: MPS House
• 27: CRB Checks

Maroteaux-Lamy disease, also known as MPS VI, is one of the rarer mucopolysaccharide diseases. It takes its name from two French doctors, Dr Maroteaux and Dr Lamy, who first described the condition in 1963.

The disease varies enormously in the severity of the problems it causes. It is important to remember this variation if you are a parent of a newly diagnosed child. There are a range of possible symptoms but this does not mean your child will experience them all, or that he or she will be severely affected by them. In fact some patients have very few physical problems and are able to lead a relatively normal life.

What causes Maroteaux-Lamy disease?

There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with Maroteaux-Lamy disease are missing an enzyme which is essential in cutting up the mucopolysaccharide called dermatan sulphate. The incompletely broken down mucopolysaccharides cannot be used in the proper development of bones and cartilage and remain stored in cells in the body causing progressive damage. Babies may show little sign of the disease but, as more and more cells become damaged, symptoms start to appear.

How common is Maroteaux-Lamy disease?

The MPS Society has data which show that over a ten-year period 5 babies with Maroteaux-Lamy disease were born in Britain. A particularly severe form of the disease has been reported among Australian aborigines. It also occurs in Siamese cats.

How is the disease inherited?

We all have genes inherited from our parents which control whether we are tall, short, fair etc. Some genes we inherit are 'recessive', that is to say we carry the gene but it does not have any effect on our development. Maroteaux-Lamy disease is caused by a recessive gene. If an adult carrying the abnormal gene has a partner who is another carrier there will be a one in four chance with every pregnancy that the child will inherit the defective gene from each parent and will suffer from the disease. There is a two in three chance that unaffected brothers and sisters of children with Maroteaux-Lamy disease will be carriers. They can be reassured however that, as the disease is so rare, the chance of having a partner who is another carrier is very slight as long as their partner is not a cousin or other blood relative.

All families of affected children should seek further information from their doctor or genetic counsellor before planning to have more children. There is a more detailed explanation of this complex subject in the booklet on the pattern of inheritance available from the MPS Society.

At the time of writing there are no tests which can predict whether a child will be mildly or severely affected.

Is there a cure?

Bone marrow transplants have been used to treat patients with Maroteaux-Lamy disease and, although not a cure, have helped to relieve some of the symptoms of the disease. There are considerable risks involved in bone marrow transplantation and it is important to take time to weigh up these risks and the possible advantages. If you wish, the Society can put you in touch with parents whose children have already had this treatment so that you can be better informed before taking a decision.

Enzyme Replacement Therapy (ERT) for MPS VI is based on the principle that the recombinant form of the enzyme that is missing or malfunctioning in individuals with MPS VI is replaced via repeated intravenous infusion. This principle has been demonstrated with the development, approval and utility of therapies to treat other lysosomal storage disorders. The goal of the therapy is aimed at prevention of progression and/or reduction of the many symptoms and clinical manifestations associated with the disease.

ERT for MPS VI was licenced in Europe in March 2006, since when those MPS VI patients (in the UK) who meet the clinical criteria have been treated with ERT.

Prenatal diagnosis

If you already have a child with Maroteaux-Lamy disease, it will be possible to have tests during a subsequent pregnancy to find out whether the baby you are carrying is affected. It is important to contact your doctor as soon as you suspect that you may be pregnant if you wish tests to be arranged. If you have any difficulty please contact the Society without delay.

Click here to read Oliver's Story.