Published: 10 June 2016
Author(s): John Mitchell, Kenneth I. Berger, Andrea Borgo, Elizabeth A. Braunlin, Barbara K. Burton, Kemel A. Ghotme, Susanne G. Kircher, David Molter, Paul J. Orchard, James Palmer, Gregory M. Pastores, David M. Rapoport, Raymond Y. Wang, Klane White
Issue: June 2016

The mucopolysaccharidoses are a group of inherited metabolic diseases caused by deficiencies in enzymes involved in the sequential degradation of glycosaminoglycans (GAGs) leading to substrate accumulation in various tissues and organs. GAG accumulation can cause growth retardation and progressive damage to respiratory, cardiovascular, musculoskeletal, nervous, gastrointestinal, auditory, and visual systems. In the past, few people with severe phenotypic mucopolysaccharidosis (MPS) reached adulthood.

Newsletters

Stay informed on our latest news!