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What Is MPS?

What Are MPS and Related Diseases?
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system.

While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.

What Are the Major Characteristics of MPS and Related Diseases?
While the symptoms of the diseases may vary from one syndrome to another, there are similarities. Affected individuals may have mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.

What Is MPS II?
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.

How is MPS II Inherited?
MPS II occurs in boys, and girls may be carriers of the gene for MPS II. 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.

How Common is Hunter Syndrome?
This is a rare condition affecting 1 in 100,000 to 1 in 150,000 males. Or, out of the 4 million babies born in the United States each year, only 40 will be born with MPS II.

Is There a Cure?
There are no cures for MPS diseases, but there are ways of managing and treating the problems they cause. In July 2006, Elaprase, an enzyme replacement therapy (ERT), was approved for the treatment of MPS II. ERT is not a cure, but a treatment that may help to lessen the severity of symptoms in the bodies of affected individuals. Also, bone marrow transplantation has been considered successful for many, though relatively few individuals qualify for this high-risk procedure.

Is Research Helping Today’s Families?
Although there are currently no cures for MPS and related diseases, research is making great strides. Carrier detection, the development of replacement enzymes, and the possibility of gene therapy, are among today’s research themes and treatment options. We have made major advancements in research thanks to the fundraising efforts of the National MPS Society, its members, and friends.

Click here for more information about MPS.

Click here to learn more about Hunter Syndrome (MPS II).