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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.
The most common mutation (seen in approx. 70% of cystic fibrosis patients) that causes the disease is known as Delta F508.It affects the functions of a gene found in chromosome 7 called Cystic Fibrosis Transmembrane Regulator (CFTR) by displacing it from its normal location on the chromosome.0% of cystic fibrosis patients) that causes the disease is known as Delta F508. It affects the functions of a gene found in chromosome 7 called Cystic Fibrosis Transmembrane Regulator (CFTR) by displacing it from its normal location on the chromosome.