What is Fabry?
Fabry Disease is one of several dozen Lysosomal Storage Disorders that interfere with the body’s ability to break down specific fatty substances. It is a rare disease and because the rate of occurrence is less than 1 in 200,000, it is considered as one of the many “Orphan” diseases.
Fabry affected patients 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 kidneys and heart.
The diagnosis of Fabry Disease in one family member may lead to the evaluation and diagnosis in other relatives, as Fabry is a defective gene in the X-chromosome.