Today we learned…
that Fabry disease is an inherited disorder of glycosphingolipid catabolism caused by deficiency of the lysosomal enzyme α-galactosidase A (α-GAL A), which leads to intracellular deposition, especially globotriaosylceramide (Gb-3), in the vascular endothelium and other tissues.
It was described by Johannes Fabry in 1898.
It is transmitted X-linked, and more than 400 mutations have been described to date (Human Gene Mutation Database, Institute of Medical Genetics, Cardiff).
There is currently no cure for Fabry disease. The symptoms and health problems resulting from the disease can be addressed with different types of therapies.
The aim of the well-known enzyme replacement therapies is to replace the natural enzyme, thereby removing GL-3 from the cells and preventing its further accumulation in the cells.
