accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Cattle do not contain the Shiga toxin receptor, globotriaosylceramide
, and therefore are asymptomatic in the presence of E.
The glycosphingolipid globotriaosylceramide
was shown to bind CD1d and inhibit the activation of a subset of CD1d-restricted T cells, the invariant Natural Killer T (iNKT) cells .
They are bound to globotriaosylceramide
(Gb3) which a glycopeptide surface receptor in the epitehlium of the target organ, inhibits protein synthesis and leads to endothelial damage, cell death, increase in inflammatory response and thrombocyte activation (see Figure 1) (19, 20).
Fabry disease is a rare lysosomal storage disorder that results in abnormal tissue deposits of a particular fatty substance (called globotriaosylceramide
, also referred to as GL-3 or Gb3) throughout the body, added the company.
It was only in 2010 and at 42 years old that Alexander finally had a definite answer to his strange condition: Fabry disease, a rare and inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide
or GL3, in the body's cells.
Fabry disease is an inherited generalized vasculopathy caused by [alpha]-galactosidase A gene mutations, resulting in enzyme deficiency and an increasing storage of globotriaosylceramide
in the vascular endothelium.
Urinary detection of globotriaosylceramide
(Gb3) is another way to diagnose renal involvement in Fabry's patient.
The defect results in the accumulation of globotriaosylceramide
(Gb3),  galabiaosylceramide, and blood group B glycolipids (1).
The disorder affects both men and women and leads to progressive intracellular accumulation of globotriaosylceramide
and other related glycosphingolipids.
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.