Fabry Disease

  • Deborah Elstein
  • Gheona Altarescu
  • Michael Beck

Table of contents

  1. Front Matter
    Pages i-xxxvii
  2. Pre-Clinical

    1. Front Matter
      Pages 1-1
    2. Martin Hřebíček, Jana Ledvinová
      Pages 81-104
    3. Bryan Winchester, Elisabeth Young
      Pages 111-132
    4. Johannes M.F.G. Aerts
      Pages 133-152
    5. Gere Sunder-Plassmann, Manuela Födinger
      Pages 153-162
    6. Omid Motabar, Ehud Goldin, Wei Zheng, Ellen Sidransky
      Pages 163-177
  3. Clinical

    1. Front Matter
      Pages 179-179
    2. David G. Warnock, Carmen Valbuena, Michael West, João Paulo Oliveira
      Pages 211-243
    3. Arndt Rolfs, Ales Dudesek, Jan Lukas, Tobias Böttcher
      Pages 245-257
    4. Catherine H. Orteu
      Pages 259-274
    5. Carmen Navarro, Susana Teijeira, Saida Ortolano, Jose M. Fernandez, Beatriz San Millan, Carmen Fachal et al.
      Pages 275-292
    6. Dominique P. Germain
      Pages 293-298
    7. Andrea Sodi
      Pages 299-306
    8. Julian A.J. Raiman, Joe T.R. Clarke
      Pages 307-320
    9. Perri Segal, Annick Raas-Rothschild
      Pages 321-324
    10. D.A. Hughes
      Pages 339-351
    11. Maryam Banikazemi
      Pages 353-364
  4. Management

    1. Front Matter
      Pages 379-379
    2. Michael Beck
      Pages 381-388
    3. Carlos E. Prada, Robert J. Hopkin
      Pages 401-415
    4. T. Andrew Burrow, Gregory A. Grabowski
      Pages 417-432
    5. Jian-Qiang Fan, Satoshi Ishii
      Pages 455-468
    6. G.E. Linthorst, C.E.M. Hollak
      Pages 469-479
    7. Catharina Whybra-Trümpler
      Pages 481-487
    8. Joe T.R. Clarke
      Pages 489-497
  5. Back Matter
    Pages 499-512

About this book


Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.


blood vessel bone cells endothelium genetics smooth muscle

Editors and affiliations

  • Deborah Elstein
    • 1
  • Gheona Altarescu
    • 2
  • Michael Beck
    • 3
  1. 1., Shaare Zedek Medical CenterGaucher ClinicJerusalemIsrael
  2. 2., Shaare Zedek Medical CenterGenetics UnitJerusalemIsrael
  3. 3.University of MainzChildren's HospitalMainzGermany

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media B.V. 2010
  • Publisher Name Springer, Dordrecht
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-90-481-9032-4
  • Online ISBN 978-90-481-9033-1
  • Buy this book on publisher's site