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Biochemistry Research International
Volume 2012 (2012), Article ID 471325, 16 pages
http://dx.doi.org/10.1155/2012/471325
Review Article

Glycosaminoglycan Storage Disorders: A Review

1Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal
2Biochemical Genetics Unit, Department of Genetics, CGMJM, INSA, Portugal

Received 2 June 2011; Accepted 9 August 2011

Academic Editor: Laura Alaniz

Copyright © 2012 Maria Francisca Coutinho et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased excretion in urine of partially degraded GAGs which ultimately result in progressive cell, tissue, and organ dysfunction. There are eleven different enzymes involved in the stepwise degradation of GAGs. Deficiencies in each of those enzymes result in seven different MPSs, all sharing a series of clinical features, though in variable degrees. Usually MPS are characterized by a chronic and progressive course, with different degrees of severity. Typical symptoms include organomegaly, dysostosis multiplex, and coarse facies. Central nervous system, hearing, vision, and cardiovascular function may also be affected. Here, we provide an overview of the molecular basis, enzymatic defects, clinical manifestations, and diagnosis of each MPS, focusing also on the available animal models and describing potential perspectives of therapy for each one.