Fabry disease causes glycolipids such as globotriaosylceramide
to accumulate in the vascular endothelium of skin, nervous system, heart and kidneys leading to inflammation and fibrosis resulting in organ dysfunction (Zarate and Hopkins, 2008).
The defect results in the accumulation of globotriaosylceramide
(Gb3),  galabiaosylceramide, and blood group B glycolipids (1).
In FD, reduced or absent activity of [alpha]-galactosidase A results in accumulation of globotriaosylceramide
(GL-3) and related glycosphingolipids in various tissues.
(Gb3/CD77) is a glycolipid that associates with Shiga toxin to induce apoptosis in Burkitt's lymphoma cells and B-lymphocytes in the germinal centers of lymphoid tissue.
Both the Stxs have an A-B structure: the A subunit has N-glycosidase activity and the B subunit binds to a membrane glycolipid, globotriaosylceramide
Deficient alpha-GAL activity leads to lysosomal accumulation of globotriaosylceramide
(GL-3), which is believed to cause the various symptoms of Fabry disease, including pain, kidney failure and increased risk of heart attack and stroke.
Molecular basis for high renal cell sensitivity to the cytotoxic effects of shigatoxin-1: upregulation of globotriaosylceramide
Fabry disease is caused by the inherited deficiency of the enzyme, alpha galactosidase A, whose function is to break down a fatty substance called globotriaosylceramide
The primary defect which allows this to occur is the inherited deficiency of the enzyme, alpha galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide
However, 2 major processes may be implicated: for example, defective activity of [alpha]-GAL A results in accumulation of globotriaosylceramide
in endothelial cells of the microvasculature.
Quantitative determination of globotriaosylceramide
by immunodetection of glycol ipid-bound recombinant verotoxin B subunit.
com/prnh/20130307/600769 Fabry disease is an inheritable lysosomal storage disease characterized by the excessive accumulation of globotriaosylceramide
(GL-3) in lysosomes.