alpha-Galactosidase/a-Gal: Products

alpha-Galactosidase A is a homodimeric glycoprotein that can release terminal alpha-galactosyl moieties from glycolipids and glycoproteins and catalyze the hydrolysis of melibiose into galactose and glucose. It is a lysosomal enzyme and is responsible for degradation of glycolipid globotriaosylceramide (Gb3) (Gal(alpha 1-4)Gal(beta 1-4)Glc (beta 1-1)-ceramide). Mutations in this gene cause Fabry disease, an X-linked hereditary lysosomal storage disease with the accumulation of Gb3 in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes. Inability to prevent the glycosphingolipid deposition can cause hypertension, strokes, heart attack and progressive renal failure. Current treatment for Fabry disease is enzyme replacement therapy using intravenously delivered recombinant alpha-Galactosidase A.