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.

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