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Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.he progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease.
Fabryâs Disease. Fabryâs disease is caused by a buildup of glycolipid in tissues. This disease causes skin growths, pain in the extremities, poor vision, recurrent episodes of fever, and kidney or heart failure. In Fabryâs disease, glycolipid, which is a product of fat metabolism, accumulates in tissues.