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Sanfilippo syndrome

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Sanfilippo syndrome

MPS III is a mucopolysaccharide disease and is also known respectively as Sanfilippo syndrome.

It takes its name from Dr. Sylvester Sanfilippo who was one of the doctors in the United States who described the condition in 1963. 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 MPS III are missing an enzyme which is essential in breaking down the used mucopolysaccharides called heparan sulfate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. To date, four different enzyme deficiencies have been found to cause MPS III, described as type A, B, C, or D.

Definition from National MPS Society website: Sanfilippo syndrome

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