Fabry disease cardiomyopathy: From genes to clinical manifestations

Attila Béla Kertész, István Édes

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

Fabry disease is an X chromosome linked disorder caused by the inherited deficiency of lysosomal enzyme α- 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.

Original languageEnglish
Pages (from-to)2477-2484
Number of pages8
JournalCurrent Pharmaceutical Biotechnology
Volume13
Issue number13
DOIs
Publication statusPublished - Dec 1 2012

Keywords

  • Cardiomyopathy
  • Chaperone
  • Enzyme replacement therapy
  • Fabry disease
  • Glycosphingolipids
  • Sphingolipidosis

ASJC Scopus subject areas

  • Biotechnology
  • Pharmaceutical Science

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