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.
What causes this 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 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