Mucopolysaccharidosis Iii

 - Cell Therapy Approaches

Mucopolysaccharidoses are a group of metabolic lysosomal storage diseases caused by the absence or impaired function of lysosomal enzymes required for glycosaminoglycan metabolism. As a result, glycosaminoglycans accumulate in the cells, causing cellular damage which affects the function of multiple organs and, in most cases, leads to mental retardation.

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is caused by impaired function of various enzymes required for complete heparan sulfate metabolism, resulting in its accumulation in the body, and is categorized into four distinct subtypes, according to the type of the enzyme. The impaired enzymes in this syndrome include: N-sulphoglucosamine sulphohydrolase (SGSH), alpha-N-acetylglucosaminidase (NAGLU), acetyl-coalpha-glucosaminide acetyltransferase (HGSNAT) or N-acetylglucosamine 6-sulfatase (GNS).