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MPS I is also known as Hurler, Hurler was named after Doctor Gertrude Hurler, who was the first to describe it in 1919.
MPS I is also called Hurler-scheie and scheie syndrome, this name for MPSI, came after the consultant ophthalmologist Dr. Scheie, who wrote about some of his patients, who were more mildly affected.
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.MPS I, along with six other MPS diseases is a mucopolysaccharide disease that is relentlessly progressive and potentially fatal. There is no cure for MPS diseases, but there are ways of managing and treating the problems they cause.
Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body. There is a continuous process in the body of replacing used materials and breaking them down for disposal. 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.
We all have genes inherited from our parents which control whether we are tall, short, fair, etc. Some genes we inherit are “recessive,” that is to say we carry the gene, but it does not have any effect on our development. MPS I (Hurler-Scheie 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 children with MPS I will be carriers. They can be reassured; however, that, 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 in the United States that 1 in 25,000 births will result in some form of MPS , in British Columbia, 1 in 100,000 babies born would have Hurler.
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. On April 30, 2003, the U.S. Food and Drug Administration (FDA) granted marketing approval for the orphan drug Aldurazyme (laronidase). Aldurazyme is the first and only FDA approved ERT treatment developed through recombinant DNA technology for individuals with MPS I.