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MPS II is one of the mucopolysaccharide diseases also known respectively as
Hunter syndrome. It takes its name from Charles Hunter, the professor of
medicine in Manitoba, Canada, who first described two brothers with the disease
in 1917. MPS II has a wide range of symptoms that vary in severity.
There is no cure for MPS diseases, but there are ways of managing and treating
the problems they cause, including enzyme replacement therapies.
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Mucopolysaccharides are long chains of sugar molecule used in the building of
connective tissues in the body.
"saccharide" is a general term for a sugar molecule (think of saccharin)
"poly" means many
"muco" refers to the thick jelly-like consistency of the molecules
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There is a continuous process in the body of replacing used materials and
breaking them down for disposal. Children with MPS II are missing an enzyme
called iduronate sulfatase which is essential in cutting up the
mucopolysaccharides called dermatan and heparan sulphate. 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.
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This is a rare condition affecting 1 in 100,000 to 1 in 150,000 males. There is
an estimate in the United States that 1 in 25,000 births will result in some
form of MPS.
MPS II occurs in boys, and girls may be carriers of the gene for MPS II.
Although rare, MPS II has been diagnosed in girls.
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All families of children with MPS II should seek further information from their
doctor or genetic counselor before planning to have more children. If the mother
is a carrier, there is a 50% risk that any boy born will have the disease.
The sisters and maternal aunts of a person with MPS II may be carriers of the
disease and would also have a 50% chance of passing the syndrome to a son. There
are tests available for carriers, so it is important for all female relatives on
the mother's side to seek advice from their doctor.
There is no cure but treatments such as enzyme replacement therapies can help
make the disease more manageable. On July 24, 2006, the FDA granted marketing
approval for ELAPRASE® (idursulfase), the first FDA approved enzyme replacement
therapy for the treatment for MPS II, also known as Hunter syndrome. For more
information on the treatment, visit http://www.elaprase.com/.
All families of affected children should seek further information from their
doctor or from a Genetic Counselor.
Information Prodivded by:
MPS Society -
http://www.mpssociety.org/content/4022/MPS_II/