Fabry Disease

Fabry Disease is a disorder of lipid metabolism that is inherited as an X-linked recessive trait and is characterized by skin lesions especially on the lower trunk, severe pain in the extremities, corneal opacities, and vascular disease affecting the kidneys, heart or brain. It results from abnormal deposits of a particular fatty substance (called globotraiosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha galactosidase A.