Fabry Disease

Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, which leads to a deficiency of the enzyme alpha-galactosidase A. This deficiency results in the buildup of globotriaosylceramide (GL-3) in various tissues, causing symptoms such as pain, kidney dysfunction, heart problems, and stroke. Fabry disease affects multiple organ systems and requires lifelong management and enzyme replacement therapy.

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