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What is Fabry Disease?

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What is Fabry disease?

The Fabry Gene (in red)Fabry disease is a rare genetic disorder caused by a defective gene (GLA) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide or GL-3. When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage. The cell damage causes a wide range of mild to severe symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age. Fabry disease is described as a progressive, destructive and potentially life-threatening disease. Fabry disease can affect males and females of all ethnic and cultural backgrounds. 

[The image to the upper right is a representation of the X-chromosome with the location of the Fabry gene annotated in red - loci Xq 22.1]
There are many different descriptions of Fabry disease in print and electronic media depending on the focus of the literature. Some of the various terminologies used include:
  • A multi-system disorder: There are many common simultaneous effects of Fabry disease on multiple bodily systems.
  • A lysosomal storage disorder: Lipid (GL-3) accumulates in the lysosomes which function as the cells' recycling centers.
  • A metabolic disorder: An inborn error of metabolism whereby the GL-3 lipid is not properly metabolized, thus disrupting normal metabolic function.
  • A hereditary or congenital disease: Congenital is synonymous with hereditary. Fabry disease is a genetic disease which may be passed from a parent to a child. Fabry disease may also appear in a family as an initial (de novo) spontaneous gene mutation.
  • An X-linked disorder: The defective Fabry gene is located on the X chromosome, which is one of the two chromosomes that determine an individual's sex.
  • An error of glycosphingolipid metabolism: The lipid GL-3 is a glycosphingolipid which refers to the chemical composition of the lipid.

See other topics in the About Fabry tab for more information about Fabry disease.  

Who named it? [Fabry disease]

Document Posted

MS Journal: Fabry Disease.jpg 2008-06-09
Last modified on Friday, 24 August 2012 08:26
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Founder's Corner

Wow, the last 10 years went by quickly! In June the National Fabry Disease Foundation will celebrate its 10 year anniversary. We are very proud of what we have accomplished but still have a long, arduous journey ahead of us. There is still so much to be accomplished. I remain very fortunate and proud to serve the Fabry community. March 2015.  Founder and President, Jerry Walter


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