National Fabry Disease Foundation

The National Fabry Disease Foundation (NFDF) is a voluntary organization whose mission is to support the Fabry disease community through education, identification, assistance, research and advocacy. Their primary function is to educate physicians, families and the public in order to help facilitate the diagnosis of Fabry disease and the offering of life-saving treatment, and to assist patients and their families in coping with Fabry disease. Fabry disease is a rare genetic disorder of lipid metabolism characterized by a deficiency of the enzyme alpha-galactosidase A, also known as ceramidetrihexosidase. Absence or less than 1% of the alpha-galactosidase A enzyme results in the “classic” subtype of Fabry disease due to the abnormal accumulation of a substance consisting of fatty material and carbohydrates (i.e., glycolipids such as glycosphingolipid) in various organs of the body, particularly in the blood vessels. Symptoms of �classic� Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), excruciating pain in the fingers and toes, and abdominal pain. Later in the course of the disease, kidney failure, heart disease, and/or strokes cause serious complications.