Biochemical and Molecular Genetic Basis of Fabry Disease

Abstract excerpt

Anderson-Fabry disease (AFD) is an inborn error of glycosphingolipid metabolism that is due to a deficiency of the lysosomal hydrolase α-galactosidase A (α-Gal A) (1). It is an X-linked lysosomal storage disorder (LSD) associated with multisystemic involvement resulting from the accumulation of neutral glycosphingolipids (mostly ceramide trihexoside [CTH]) in various organs (2). The disease manifests primarily in...

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