What genes are related to Fabry disease?
Mutations in the GLA gene cause Fabry disease. The GLA gene makes an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as the cell’s recycling center. The enzyme normally breaks down a molecule called globotriaosylceramide. Mutations in the GLA gene prevent alpha-galactosidase A from breaking down globotriaosylceramide, allowing it to build up in the body’s cells. Over time, this buildup damages cells throughout the body, particularly blood vessels in the skin and cells in the kidneys, heart, and nervous system. GLA mutations that result in an absence of alpha-galactosidase A activity lead to the typically severe features of Fabry disease. Mutations that decrease but do not eliminate the enzyme’s activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.
