what type of mutation gene is in fabry disease
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.