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Title: Glycosaminoglycan Storage Disorders: a review
Author: Coutinho, Maria Francisca
Lacerda, Lúcia
Alves, Sandra
Keywords: Glycosaminoglycans
Doenças Genéticas
Issue Date: 5-Oct-2011
Publisher: Hindawi Publishing Corporation
Citation: Biochem Res Int. 2012;2012:471325. Epub 2011 Oct 5
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.
Peer review: yes
ISSN: 2090-2247
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Appears in Collections:DGH - Artigos em revistas internacionais

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