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Is also known as Maroteaux-Lamy syndrome it named after the French doctors, Dr. Maroteaux and Dr. Lamy who first described the condition in 1963.
The disease occurs when children are missing an enzyme which is essential in cutting up the mucopolysaccharides called dermatan sulfate. The incompletely broken down mucopolysaccharides 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.
MPS VI (Maroteaux-Lamy syndrome) is caused by a recessive gene. If an adult carrying the abnormal gene marries 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 be affected with the disease. There is a two in three chance that unaffected brothers and sisters of MPS VI children will be carriers.
They can be reassured; however, as the disease is so rare, the chance of marrying another carrier is very slight provided they do not marry a cousin or other close family member.
It has been estimated that about 1 in 215,000 births are affected with MPS VI (Maroteaux-Lamy syndrome). There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.
There is no cure but treatments such as enzyme replacement therapies (ERT) can help make MPS VI a more manageable disease. In June 1, 2005, the U.S. Food and Drug Administration (FDA) approved the first enzyme replacement therapy for the treatment of MPS VI.