Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/309
Título: Glycosaminoglycan Storage Disorders: a review
Autor: Coutinho, Maria Francisca
Lacerda, Lúcia
Alves, Sandra
Palavras-chave: Glycosaminoglycans
Mucopolysaccharidoses
Doenças Genéticas
Data: 5-Out-2011
Editora: Hindawi Publishing Corporation
Citação: Biochem Res Int. 2012;2012:471325. Epub 2011 Oct 5
Resumo: 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
URI: http://hdl.handle.net/10400.18/309
ISSN: 2090-2247
Versão do Editor: http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22013531/?tool=pubmed
Aparece nas colecções:DGH - Artigos em revistas internacionais

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