International Center for Fabry Disease
The purpose of this text is to provide patients and their families with information about the symptoms, diagnosis, management, and enzyme replacement therapy for Fabry disease.
In 1898, two dermatologists, Johann Fabry in Dortmund, Germany and William Anderson in London, England, independently described the first patients with the disorder now known as Fabry disease. Forty years later, it was recognized that the disease resulted from abnormal deposits of a particular fatty substance (known as globotriaosylceramide) in blood vessel walls throughout the body. In the 1960's, the primary defect was identified as the inherited deficiency of the enzyme, a-galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide. The gene for this enzyme was isolated and characterized in 1986 at Mount Sinai, permitting improved diagnosis, especially of female carriers, and the capability to produce large amounts of the normal enzyme for trials of enzyme replacement therapy.