Fabry's disease pathophysiology: Difference between revisions

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==Pathophysiology==
==Pathophysiology==
'''Physiology'''
 
*[[GLA|GLA gene]] codes information for the enzyme [[Alpha-galactosidase|alpha- galactosidase]].
==== Pathophysiology ====
 
*[[GLA|GLA gene]] encodes information for the enzyme [[alpha-galactosidase]].
*Normal function of the enzyme [[alpha-galactosidase]] is to breakdown [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] (also abbreviated as [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|Gb3, GL-3, or ceramide trihexoside]]) into [[glucocerebroside]] in [[lysosomes]] that serve as recycling centres.
*Normal function of the enzyme [[alpha-galactosidase]] is to breakdown [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] (also abbreviated as [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|Gb3, GL-3, or ceramide trihexoside]]) into [[glucocerebroside]] in [[lysosomes]] that serve as recycling centres.


[[File:841px-Glycosphingolipid.svg.png|396px|none|thumb|By Huckfinne - Own work, Public Domain, https://commons.wikimedia.org/w/index.php?curid=9527371|alt=Inborn errors in Glycosphingolipids metabolism|center]]
[[File:841px-Glycosphingolipid.svg.png|396px|none|thumb|By Huckfinne - Own work, Public Domain, https://commons.wikimedia.org/w/index.php?curid=9527371|alt=Inborn errors in Glycosphingolipids metabolism|center]]
==== Pathophysiology ====


*[[Fabry's disease|Fabry disease]] is caused by a [[Alpha-galactosidase A deficiency|deficiency of alpha-galactosidase.]]
*[[Fabry's disease|Fabry disease]] is caused by a [[Alpha-galactosidase A deficiency|deficiency of alpha-galactosidase.]]

Revision as of 23:13, 16 August 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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Pathophysiology

Inborn errors in Glycosphingolipids metabolism
By Huckfinne - Own work, Public Domain, https://commons.wikimedia.org/w/index.php?curid=9527371

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Microscopic pathology

On histopathological analysis, these findings are characteristic of Fabry's disease:

  • light microscopy is not as specific in confirming FD as electron microscopy and thus is only done when electron microscopy is unavailable. Lipid staining of a kidney biopsy may demonstrate storage cells within the glomeruli, which proves of little significance.
  • Ultrastructural analysis of the heart and kidney biopsies can reveal lysosomal storage in the endomyocardial and certain renal tubular cells respectively. The ultrastructural appearance of these inclusions is whorled layers of alternating dense and pale material also called zebra bodies.


References