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Subcellular, Cellular and Organ Pathology of Fabry Disease

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Fabry Disease

Abstract

Survey of the known structural alterations is presented at the subcellular, cellular and organ levels with an attempt to correlate them with the primary enzyme catalytic defect and with pathways representing the main substrate influx into the deficient lysosomal system; the latter of which has turned out to be largely unknown. All these structural changes are presented as a basis of the known functional sequels responsible for the altered biology of the storage lysosomal system and of storage affected cells and which, ultimately, lead to cell death, and organ destruction and failure. Cell types expressing lysosomal storage are listed, some of which are less well known, while others are suggested as candidates for future studies.

Current knowledge, novel views, and challenges

Fabry disease (alpha galactosidase deficiency) unlike other lysosomal enzymopathies is unique as it lacks a (lethal) infantile form.

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Notes

  1. 1.

    Fabry disease (alpha galactosidase deficiency) unlike other lysosomal enzymopathies is unique as it lacks a (lethal) infantile form.

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Acknowledgement

Bulk of the studies was supported by a research project of the Ministry of Education Youth and Sports (Grant No. MSM 0021620806). Technical assistance in manuscript preparation by Eva Horáková, perfect laboratory work of Irena Knesplová, Marie Kolářová and Lenka Kryšpinová and are greatly appreciated. The author thanks also to Dr. Tom Secrest for language text editation

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  1. First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University, Prague, Czech Republic

    Milan Elleder

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  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Elleder, M. (2010). Subcellular, Cellular and Organ Pathology of Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_3

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