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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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Biochemistry Research International |
| Online Access: | http://dx.doi.org/10.1155/2012/471325 |
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| author | Maria Francisca Coutinho Lúcia Lacerda Sandra Alves |
| author_facet | Maria Francisca Coutinho Lúcia Lacerda Sandra Alves |
| author_sort | Maria Francisca Coutinho |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-ef773ea0262d44398e18ef6cb6d45414 |
| institution | Kabale University |
| issn | 2090-2247 2090-2255 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Biochemistry Research International |
| spelling | doaj-art-ef773ea0262d44398e18ef6cb6d454142025-02-03T07:25:04ZengWileyBiochemistry Research International2090-22472090-22552012-01-01201210.1155/2012/471325471325Glycosaminoglycan Storage Disorders: A ReviewMaria Francisca Coutinho0Lúcia Lacerda1Sandra Alves2Research and Development Unit, Department of Genetics, CGMJM, INSA, PortugalBiochemical Genetics Unit, Department of Genetics, CGMJM, INSA, PortugalResearch and Development Unit, Department of Genetics, CGMJM, INSA, PortugalImpaired 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.http://dx.doi.org/10.1155/2012/471325 |
| spellingShingle | Maria Francisca Coutinho Lúcia Lacerda Sandra Alves Glycosaminoglycan Storage Disorders: A Review Biochemistry Research International |
| 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 |
| url | http://dx.doi.org/10.1155/2012/471325 |
| work_keys_str_mv | AT mariafranciscacoutinho glycosaminoglycanstoragedisordersareview AT lucialacerda glycosaminoglycanstoragedisordersareview AT sandraalves glycosaminoglycanstoragedisordersareview |