1. Disease Pathway


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Fabry Disease is a disease due to deficiency in alpha galactosidase A. The role of the enzyme is to break down a complex and almost unpronounceable molecule called Globotriaosyl-ceramide into galactose and another smaller molecule. If that doesn’t happen Globotriaosyl-ceramide builds up in the cells and that build up over the years eventually results in cell dysfunction, cell death and damage to the organs that are involved.

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