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.
