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A Guide to Understanding MPS III
MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, one of the U.S. doctors who described the condition in 1963.
What causes the disease?
• Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body.
• “muco” refers to the thick jelly-like consistency of the molecules
• “poly” means many
• “saccharide” is a general term for a sugar molecule
The body constantly replaces used materials and breaks them down for disposal. MPS III patients are missing an enzyme essential to breaking down the mucopolysaccharide heparan sulphate. These materials remain stored in the body’s cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear.
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