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Glycosaminoglycan Storage Disorders: A Review

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...

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Detalles Bibliográficos
Autores principales: Coutinho, Maria Francisca, Lacerda, Lúcia, Alves, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195295/
https://www.ncbi.nlm.nih.gov/pubmed/22013531
http://dx.doi.org/10.1155/2012/471325
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author Coutinho, Maria Francisca
Lacerda, Lúcia
Alves, Sandra
author_facet Coutinho, Maria Francisca
Lacerda, Lúcia
Alves, Sandra
author_sort Coutinho, Maria Francisca
collection PubMed
description 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.
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spelling pubmed-31952952011-10-19 Glycosaminoglycan Storage Disorders: A Review Coutinho, Maria Francisca Lacerda, Lúcia Alves, Sandra Biochem Res Int Review Article 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. Hindawi Publishing Corporation 2012 2011-10-05 /pmc/articles/PMC3195295/ /pubmed/22013531 http://dx.doi.org/10.1155/2012/471325 Text en Copyright © 2012 Maria Francisca Coutinho et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Review Article
Coutinho, Maria Francisca
Lacerda, Lúcia
Alves, Sandra
Glycosaminoglycan Storage Disorders: A Review
title Glycosaminoglycan Storage Disorders: A Review
title_full Glycosaminoglycan Storage Disorders: A Review
title_fullStr Glycosaminoglycan Storage Disorders: A Review
title_full_unstemmed Glycosaminoglycan Storage Disorders: A Review
title_short Glycosaminoglycan Storage Disorders: A Review
title_sort glycosaminoglycan storage disorders: a review
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195295/
https://www.ncbi.nlm.nih.gov/pubmed/22013531
http://dx.doi.org/10.1155/2012/471325
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