Abstract
Fabry disease is an X chromosome linked disorder caused by the inherited deficiency of lysosomal enzyme - galactosidase A. The deficiency results in abnormal degradation of certain glycosphingolipids. Although the disease is known for more than hundred years and the underlying molecular basis is getting to be well defined, there are still a lot of unanswered questions regarding the different clinical presentations, available diagnostic procedures and therapeutic interventions. The scope of the article is to review the molecular basis of Fabry disease and summarize the available data about Fabry disease cardiomyopathy, highlight the controversies of current knowledge and evaluate future research directions.
Keywords: Cardiomyopathy, chaperone, enzyme replacement therapy, Fabry disease, glycosphingolipids, sphingolipidosis
Current Pharmaceutical Biotechnology
Title:Fabry Disease Cardiomyopathy: from Genes to Clinical Manifestations
Volume: 13 Issue: 13
Author(s): Attila Bela Kertesz and Istvan Edes
Affiliation:
Keywords: Cardiomyopathy, chaperone, enzyme replacement therapy, Fabry disease, glycosphingolipids, sphingolipidosis
Abstract: Fabry disease is an X chromosome linked disorder caused by the inherited deficiency of lysosomal enzyme - galactosidase A. The deficiency results in abnormal degradation of certain glycosphingolipids. Although the disease is known for more than hundred years and the underlying molecular basis is getting to be well defined, there are still a lot of unanswered questions regarding the different clinical presentations, available diagnostic procedures and therapeutic interventions. The scope of the article is to review the molecular basis of Fabry disease and summarize the available data about Fabry disease cardiomyopathy, highlight the controversies of current knowledge and evaluate future research directions.
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Cite this article as:
Bela Kertesz Attila and Edes Istvan, Fabry Disease Cardiomyopathy: from Genes to Clinical Manifestations, Current Pharmaceutical Biotechnology 2012; 13 (13) . https://dx.doi.org/10.2174/1389201011208062477
DOI https://dx.doi.org/10.2174/1389201011208062477 |
Print ISSN 1389-2010 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4316 |
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