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MPS VII is also known as sly syndrome, it named after Dr. William Sly who originally described the condition in 1972.
The disease occur when children are missing an enzyme called beta-glucuronidase, which is essential in cutting up the used mucopolysaccharides, called heparan sulfate, chondroitin 4-, 6-sulfates, and dermatan sulfate.
The incomplete 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 VII is caused by a recessive gene. If the 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 sly patients will be carriers. They can be reassured, however, that as the disease is so rare, and the chance of marrying another carrier is very slight provided they do not marry a cousin or other close family member.
MPS VII is one of the least common forms of MPS with an estimated frequency of less than 1 in 250,000 births. There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.
At present there is no cure for MPS VII , There has been little or no experience with bone marrow transplantation or with enzyme replacement therapy in individuals with it , however, suggest that both bone marrow transplantation and enzyme replacement therapy may be effective forms of therapy for problems affecting the body.