What Is Fabry Disease?

Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) 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 abbreviated GL-3 or GB-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 failure and strokes often at a relatively early age. Fabry disease is 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 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/GB-3) accumulates in the lysosomes, which function as the cells' recycling/housekeeping centers.
• A metabolic disorder: An inborn error of metabolism whereby the GL-3/GB-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, that is 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.