Mucopolysaccharide storage disorders

The mucopolysaccharidoses (MPSs) are a group of 11 distinct metabolic disorders that result from the deficiency of the various lysosomal enzymes required to degrade the glycosaminoglycans (GAGs) that constitute a major component of the extracellular matrix, joint fluid and connective tissue. The progressive lysosomal accumulation of GAGs ultimately impairs joint mobility and adversely affects the skeleton and cardiovascular system. Depending on the type or subtype of mucopolysaccharidosis, mental development may range from normal to profoundly impaired. Enzymatic and molecular diagnostic testing are available for all the MPSs. Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) are the only specific treatments for MPS currently available