Fabry Disease

Fabry disease is a rare, inherited lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A, which allows a fatty substance called globotriaosylceramide to build up in the walls of blood vessels and in organs throughout the body. It typically causes burning pain in the hands and feet, small dark red skin lesions, reduced sweating, cloudy patches in the cornea, and progressive damage to the kidneys, heart and blood vessels of the brain over time. It is inherited in an X-linked pattern and was independently described in 1898 by German dermatologist Johannes Fabry and English dermatologist William Anderson.