Biochemical Basis of Fabry Disease with Emphasis on Mitochondrial Function and Protein Trafficking
Fabry disease, also known as Anderson-Fabry disease, is an X-linked lysosomal storage disorder. The clinical picture is highly variable and usually milder in females. It is a multisystemic disease involving many organs. Fabry disease is due to a deficiency of alpha-galactosidase A caused by differen...
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Published in | Advances in Clinical Chemistry Vol. 49; pp. 57 - 71 |
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Main Authors | , |
Format | Book Chapter Journal Article |
Language | English |
Published |
United States
Elsevier Science & Technology
2009
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Subjects | |
Online Access | Get full text |
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Summary: | Fabry disease, also known as Anderson-Fabry disease, is an X-linked lysosomal storage disorder. The clinical picture is highly variable and usually milder in females. It is a multisystemic disease involving many organs. Fabry disease is due to a deficiency of alpha-galactosidase A caused by different usually "private" mutations. Enzyme replacement therapy (ERT) has been established, other therapeutic options are at an experimental stage. Classically, mechanical deposition of storage material in blood vessels was believed to lead to decreased blood supply with consecutive organ dysfunction. Recently, however, many secondary biochemical processes have been discussed to be involved in the pathogenesis of Fabry disease. For example, compromised energy metabolism has been found both in vitro and in vivo, altered lipid composition of membranes can lead to abnormalities in trafficking and sorting of rafts-associated proteins. We discuss the role of these secondary phenomena in the pathogenesis of Fabry disease. |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
ISBN: | 9780123747983 0123747988 |
ISSN: | 0065-2423 |
DOI: | 10.1016/S0065-2423(09)49003-6 |