Fabry is a rare disease caused by changes in the GLA gene, which may be referred to as mutations or variants.

People with Fabry disease have trouble breaking down and getting rid of certain fatty waste substances (substrates) in cells. This happens because of a variant in the GLA gene that leads to a deficient or absent enzyme called alpha-Gal A. When alpha-Gal A is present and functioning, it travels to the cell’s recycling center, called the lysosome, to break down the fatty substances in the cell.