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. The disorder belongs to a group of diseases known as lysosomal storage disorders.

 General Discussion

Fabry disease is a rare genetic disorder of lipid metabolism characterized by a deficiency of the enzyme alpha-galactosidase A, also known as ceramidetrihexosidase. The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates. Low levels or inactivity of the alpha-galactosidase A enzyme leads 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 blood vessels and the eyes. Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment. Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications. Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males. A milder form of the disease has been identified in females.