Fabry Disease


Fabry disease is a rare inherited disorder caused by a defective gene located on the X chromosome. This gene defect causes the body not to produce enough of an enzyme called alpha-GAL that cleans fatty substances from cells.

About Fabry Disease

Fabry disease is an inherited condition that affects only a few thousand people worldwide. Fabry disease causes a wide range of signs and symptoms that can range from mild to severe and life-threatening.

How Fabry Disease Affects the Body

Our bodies contain thousands of active substances called enzymes. In people without Fabry disease, the enzyme alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze a), or alpha-GAL, helps the body to break down a fatty substance called globotriaosylceramide (pronounced glow-bow-tri-oh-syl-ser-a-mide), or GL-3.

People with Fabry disease are missing or have insufficient amounts of the alpha-GAL enzyme, which is important in the healthy functioning of organs. The alpha-GAL enzyme is responsible for removing a fatty substance, GL-3, from cells throughout the body. Without enough of this enzyme, the GL-3 substance builds up in a wide range of cells within your body, especially the cells lining your blood vessels as well as kidney, heart and skin cells.

People with Fabry disease may experience a wide range of signs and symptoms, and at varying severity depending on the stage of disease progression. Early symptoms may include pain attacks in the hands or feet, cold and/or heat intolerance, and gastrointestinal complaints. These symptoms reflect disease activity and progression leading to late complications such as kidney failure, heart problems, and stroke.

Sandra (shown with her daughter), USA, Fabry patient

Additional Information

To learn more about Fabry disease contact your doctor or other healthcare professionals, or the following patient associations:

Last Updated: 5/4/2015
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