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Fabry Disease

Fabry disease is a rare, inherited disorder caused by a mutation in a gene called GLA. A person who inherits this mutation is unable to produce enough of an enzyme known as alpha-galactosidase A, or alpha-GAL.

Normally, alpha-GAL breaks down a fatty substance called globotriasylceramide, or GL-3. Without enough alpha-GAL enzyme to break it down, the fatty substance GL-3 builds up in cells throughout the body.

A build-up of GL-3 affects organs in the body and causes signs and symptoms of Fabry disease.

Fabry disease is estimated to affect approximately one out of every 40,000 males and up to twice as many females.

Use this checklist to prompt a discussion with your physician.

A dry blood spot test and/or genetic testing can help early detection of Fabry disease

Possible Symptoms of Fabry Disease

Resources

Canadian Fabry Association

A non-profit organization that raises awareness and educates the public about Fabry disease.

Health information contained herein is provided for general educational purposes only. Your healthcare professional is the single best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.

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