Mucopolysaccharidosis, Type Vi

 - 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 VI (MPS VI, Maroteaux-Lamy syndrome) caused by the enzyme N-acetylgalactosamine 4-sulfatase deficiency, due to a mutation in the ARSB gene, leading to accumulation of dermatan sulfate.