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Sanfilippo Syndrome takes its name from Dr. Sylvestor Sanfilippo, one of the doctors who first described the disease in 1963.  Sanfilippo Syndrome is a mucopolysaccharide disorder, also described as MPS-III, and falls within a broader group of genetic disorders known as the Lysosomal Storage Disease.  It is one of seven Mucopolysaccharide (MPS) disorders.  Children with Sanfilippo syndrome are missing an essential enzyme that breaks down a complex body sugar called heparan sulfate.  This sugar will slowly build  up in the bones, the brain and other organs, stopping normal development.

 

What are the symptoms?

 

While development is normal in the first three or four years, sufferers lose the ability to speak at around the age of 7.  By the age of 10 they are confined to a wheelchair, and then bedridden by the age of 14.  This decline will be accompanied by hyperactivity, sleep disorders, mental regression and dementia, and will finally lead to an early death.  These children will wither and succumb in her youth.

 

What causes Sanfilippo Syndrome?

 

The following provides, in general terms, a graphic representation of lysosome storage disorders.  It is adapted from  "Human Genetic Diseases: A Layman's Approach" which appears on the Web site for the National MPS Society.

"The three shapes (cube, pentagon, and hexagon) represent a single molecule that has been collected by the lysosome.  Each shape represents a subcomponent of the molecule and can be used by the cell to perform a specific function.  The problem is that, with all the components linked together, the cell cannot use the pieces.  Using chemicals in the lysosome, the cell first breaks apart the bonds that are holding the pieces together.  This is an orderly process.  The lysosome removes the cube first, then the pentagon, and finally the hexagon.  The hexagon cannot be removed unless the pentagon and cube have first been removed.

 

"Each of the numbers represent a chemical that is made by the cell and placed into the lysosome.  Each is essential for breaking down the large molecule.  Because each chemical is highly specialized, each provides one and only one action.  If an individual is lacking enzyme 2, then only the cube will be removed, leaving a large molecule that is useless to the cell and does not have anywhere to go.  It will remain in the lysosome and eventually interfere with the cell's functions."

 

Is there a cure?

 

Today, there is nothing doctors can do to treat the symptoms of Sanfilippo Syndrome.  But tomorrow......

 

Only 40 years ago, the disease had not yet been fully described.  The Sanfilippo Children's Research Foundation seeks to fund further research so that one day soon, more effective treatments.... and a cure.... may be discovered.