Fabry Disease is one of several dozen Lysosomal Storage Disorders that interfere with the body’s ability to break down specific fatty substances.
Fabry affected are missing or lack sufficient alpha-galactosidase A (alpha-gal A) enzyme which results in sugars and fatty acids (Gb3) accumulating in the cells throughout the body and impairs the function of several major organs including the kidney and heart.
This can become a major problem in parts of the body that depend on small blood vessels, since the accumulation of substrate (Gb3) can clog the vessels.
The areas that are most affected by the closing of small blood vessels are the kidneys, heart, nervous system, skin and inner ear.
It is a very rare disease and because the rate of occurrence is less than 1 in 200,000 is considered one of the many “orphan” diseases.