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What is Fabry disease?

Fabry disease is a rare, inherited disease caused by a change in a gene called GLA.

How rare is Fabry disease?

When someone has Fabry disease, this faulty gene means that either their body does not make an important enzyme called α-galactosidase A or this enzyme does not work well.

Usually, the α-galactosidase A enzyme breaks down fatty substances called glycosphingolipids. Because the enzyme does not work properly (or at all) in people with Fabry disease, deposits of the glycosphingolipids start building up in the cells of the body.

These deposits cause damage over time to different parts of the body leading to a wide range of symptoms

Watch the What is Fabry Disease video