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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.
Cystic fibrosis is a genetic condition caused by a faulty gene (known as the CFTR gene). The CFTR gene normally creates a protein that moves salt and water out of a cell.If the CFTR gene is defective, it results in a build-up of thick, sticky mucus in the body's tubes and passageways.These blockages damage the lungs, digestive system and other organs, resulting in inflammation (swelling) and, in the lungs, repeated infections.f the CFTR gene is defective, it results in a build-up of thick, sticky mucus in the body's tubes and passageways. These blockages damage the lungs, digestive system and other organs, resulting in inflammation (swelling) and, in the lungs, repeated infections.