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About Fabry Disease

Fabry disease is a hereditary disorder caused by a faulty gene in the body. Due to this error in the body's genetic makeup, an essential enzyme (known as alpha-galactosidase, or alpha-GAL) is missing or present in a reduced amount.

Without this enzyme, certain proteins (primarily globotriaosylceramide or GL-3) are not removed from the body, and instead stay in the in the walls of blood cells. The result is a build-up of the GL-3. It is this build-up, or storage, that causes most of the problems in Fabry disease.

As GL-3 builds up in the walls of blood vessels over time, it does increasing damage to the body. Major systems like cardiovascular, cerebrovascular and renal become affected and can stop functioning properly.

That is why it is important to recognise the symptoms of Fabry disease and to be tested by your doctor.

If Fabry disease is diagnosed early, symptom management may be more effective and may lead to an improved quality of life.

For further information regarding Fabry disease please visit

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