• 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 VI
      • 2.3.5.1: Oliver's Story
    • 2.3.6: MPS VII
    • 2.3.7: ML I
    • 2.3.8: ML II and III
    • 2.3.9: ML IV
    • 2.3.10: Fucosidosis
    • 2.3.11: Mannosidosis
    • 2.3.12: Sialic Acid Storage Disease
    • 2.3.13: MSD
    • 2.3.14: AGU
    • 2.3.15: Winchester
  • 2.4: Personal stories
• 3: Fabry Disease
• 4: Advocacy Support
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• 8: Research
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• 30: Terms and Conditions

MPS VI Maroteaux-Lamy Disease

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 MPS VI?

There is a continuous process in the body of replacing used materials and breaking them down for disposal. Individuals 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 MPS VI?

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 MPS VI 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. MPS VI 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 MPS VI 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 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.

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

Prenatal diagnosis

If you already have a child with MPS VI, 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.

Further information

There is a detailed booklet on MPS VI 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