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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.
Written by Christian Nordqvist. Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme called alpha galactosidase A (a-GAL A), which is encoded by the GLA gene. In patients with Fabry disease, a-GAL A is either lacking or deficient. They should be taken daily. 2  Enzyme replacement therapy (ERT) - ERT is a medical treatment that replaces an enzyme which is either absent or deficient in patients. 3  In Fabry disease patients' cases, the missing enzyme is alpha galactosidase A (a-GAL A).