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Causes
An absence or a deficiency of a lysosomal enzyme called alpha-galactosidase A (α-Gal A) is the major cause of the Fabry disease. Encoded by GLA gene, α-Gal A normally hydrolyzes terminal α-galactosyl moieties of glycolipids and glycoproteins, which is essential for glycosphingolipid metabolism. Thus, deficiency of α-Gal A causes an accumulation of globotriaosylceramide (GL-3), a glycosphingolipid, in many organs including kidneys, heart, and nerves. This accumulation of GL-3 in the endothelium of multiple organs causes cellular dysfunction leading to a cascade of cells and tissues ischemia and fibrosis.

Fabry disease is an X-linked genetic disorder. It is a rare disease occurring to one in 40,000 men. Males are more severly affected than females because X-chromosome carries the GLA gene for Fabry disease. Because females have two copies of X-chromosome, the lack of enzyme function due to the mutation on GLA gene on one X-chromosome can partially be compensated by another X-chromosome, leading to some alpha-galactosidase A activity. However, males have only one X-chromosome, therefore more vulnerable to the disease.