Sanfilippo Syndrome is also known as Mucopolysaccharidosis type III (MPS III). Children with MPS III, have a genetic defect which prevents their body from adequately producing one of four necessary enzymes. Because of this missing enzyme, all children with MPS III accumulate a compound known as Heperan Sulfate in their brain and central nervous system. The result of this accumulated waste material is progressive brain damage and, eventually, death – usually in the second decade of life. MPS III affects roughly only 1 in 100,000 births in the US. Currently, there are no treatments or a cure.
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