MPS-I PDF Print E-mail
Written by cdutcher   
Thursday, 03 May 2012 19:20

 

MPS I (Hurler, Hurler-Scheie, Scheie syndrome)

 

 

MPS I, along with six other MPS diseases is a mucopolysaccharide disease that is relentlessly progressive and potentially fatal. MPS I has also been called Hurler, Hurler-Scheie and Scheie syndrome . Hurler takes its name from Gertrude Hurler, the doctor who described a boy and girl with the condition in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about some of his patients who were more mildly affected. Individuals who seem not to fit clearly in either the severe or the mild end of the disease were said to have Hurler/Scheie. The specific disease names have been replaced with the designations attenuated (diminished severity) and severe MPS I. There is no cure for MPS diseases, but there are ways of managing and treating the problems they cause.

What causes this disease?

Children with these diseases are missing an enzyme called alpha-L-iduronidase which is essential in breaking down the mucopolysaccharides called dermatan sulfate and heparan 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.

Which disease does my child have?

MPS I (Hurler-Scheie) is a continuum of severity based upon the symptoms, ranging from severe to attenuated. There is a great deal of variability of symptoms among individuals with MPS I, often making the specific designation difficult. Generally, severe MPS I will present within the first year of life while less severe (attenuated) forms present during childhood. Although individuals with attenuated MPS I have normal intelligence, they may have a variety of symptoms that can range from mild to severe.

How common are these diseases?

It has been estimated that in British Columbia, 1 in 100,000 babies born would have Hurler. The estimate for Scheie is 1 in 500,000, births and for Hurler/Scheie it is 1 in 115,000. There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.

How is the disease inherited?

MPS I (Hurler-Scheie syndrome ) is caused by a recessive gene. The only way is if two individuals carrying the gene reproduce and then the offspring has a ¼ chance of being born with it.

Is there cure for MPS I?

There is no cure but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease. visit the treatment website at http://www.aldurazyme.com.

 

 

Last Updated on Thursday, 17 May 2012 18:35
 
Would you have a child if there was a 50% chance they would have a severe medical disorder?
 
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