Mucopolysaccharidoses (MPS) diseases are genetic lysosomal diseases (LD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.
At present there is no cure for any of the mucopolysaccharide diseases.
MPS III is a mucopolysaccharide disease also known 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.
Unlike many other forms of MPS, symptoms often appear after the first year of life. A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by deteriorating mental status.
Sanfilippo syndrome is possibly the most common forms of MPS. It is seen in about 1 in 70,000 births. A family history of Sanfilippo syndrome increases the risk for this condition.