What is Fabry disease?

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 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 impacts such as kidney failure, heart attacks and strokes. 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.

A multi-system disorder: There are many common simultaneous effects of Fabry disease on multiple bodily systems. See Fabry symptoms?

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. See How is Fabry disease inherited?

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 the associated topics in this section for other information about Fabry disease and see the journal article MS Journal: Fabry Disease for one of the better concise descriptions of the disease (link below).