Fabry

Society for Mucopolysaccharide Diseases
MPS House, Repton Place, White Lion Road, Amersham, Buckinghamshire, HP7 9LP, UK
Tel: 0845 389 9901 Fax: 0845 389 9902
National Registered Charity No. 287034

Fabry Disease

Fabry Disease is a rare X-linked hereditary disorder first described independently by two dermatologists, Dr Anderson in England and Dr Fabry in Germany in 1896. For nearly a century it was also known as Anderson Fabry Disease.

Fabry disease is one of several dozen lysosomal storage diseases that interfers with the body's ability to break down a specific fatty substance called ceramidetrihexoside (CTH). This is sometimes referred to as globotriaosylceramide. The human body depends on a vast array of biochemical reactions to support critical functions, including the production of energy, growth and development, communication within the body, and protection from infection. Another critical function is the breakdown of large biomolecules. This is the underlying factor in Fabry Disease. One of the major lysosomal enzymes involved in the breakdown of CTH is alpha-galactoside A (a-gal A).

In patients with Fabry disease, the a-gal A enzyme is either partially or completely inactive. As a result, CTH builds up in the cells throughout the body, particularly in the walls of blood vessels. As this build-up continues over many years, the blood vessels become more narrow and therefore reduce the flow of blood, nutrients and oxygen in the body. This may become a major problem in parts of the body that depend on small blood vessels, since these vessels can become completely blocked by the deposits of CTH. The areas that are most affected by the closing of the small blood vessels are the kidneys, heart, nervous system and skin.

Symptoms
Inheritance
Prenatal Diagnosis
ASHG Abstract on Fabry Disease