What Is the Nature of the Metabolic Defect in Fabry Disease?
The body performs thousands of metabolic processes which are necessary for the production of vital compounds and the recycling or removal of others. One such compound called globotriaosylceramide is formed of three sugars and a fatty substance called ceramide, and is found in most cells of the body. Normally globotriaosylceramide is broken down (metabolized) to lactosylceramide by the enzyme a-galactosidase A. In patients with Fabry disease, this enzyme does not function properly or is absent, and globotriaosylceramide cannot be broken down in cells, leading to its progressive accumulation. Thus, Fabry disease is often referred to as a “storage disorder” because of the abnormal accumulation of globotriaosylceramide. In patients with Fabry disease, globotriaosylceramide accumulates preferentially in the walls of blood vessels. As the abnormal storage of this fatty compound increases with time, the channels of these vessels become narrowed, leading to decreased blood flow and decreased n
