Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by deficiency of the enzyme α-galactosidase A.
It results in accumulation of globotriaosylceramide (Gb3), a neutral glycosphingolipid, in small blood vessels, nerves, dorsal
root ganglia, renal glomerular and tubular epithelial cells, and cardiomyocytes. Enzyme replacement therapy (ERT), given as
intravenous infusions of recombinant human α-galactosidase A, consistently decreases Gb3 levels in plasma. The effects of
ERT on Gb3 deposits in other tissues are less certain.