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 cells. GL-3 build-up in kidney cells may cause severe kidney problems, including kidney failure.

People with Fabry disease may experience a wide range of signs and symptoms, including severe conditions such as kidney failure, heart problems, and stroke.

The illustrations below show how unaffected cells can clear GL-3 (left), whereas GL-3 builds up in cells affected by Fabry disease (right).

Learn more about Fabry disease at Genzyme's Fabry Community website. This website contains additional information on signs and symptoms, how the disease is inherited, and how females are affected. Fabry Community also offers resources for people living with Fabry disease, their families, and their healthcare providers.