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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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