Glycosaminoglycan Storage Disorders : A Review
Joint Authors
Alves, Sandra
Coutinho, Maria Francisca
Lacerda, Lúcia
Source
Biochemistry Research International
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-16, 16 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-10-05
Country of Publication
Egypt
No. of Pages
16
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Coutinho, Maria Francisca& Lacerda, Lúcia& Alves, Sandra. 2011. Glycosaminoglycan Storage Disorders : A Review. Biochemistry Research International،Vol. 2012, no. 2012, pp.1-16.
https://search.emarefa.net/detail/BIM-474124
Modern Language Association (MLA)
Coutinho, Maria Francisca…[et al.]. Glycosaminoglycan Storage Disorders : A Review. Biochemistry Research International No. 2012 (2012), pp.1-16.
https://search.emarefa.net/detail/BIM-474124
American Medical Association (AMA)
Coutinho, Maria Francisca& Lacerda, Lúcia& Alves, Sandra. Glycosaminoglycan Storage Disorders : A Review. Biochemistry Research International. 2011. Vol. 2012, no. 2012, pp.1-16.
https://search.emarefa.net/detail/BIM-474124
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-474124