Biochemical and molecular genetic basis of Fabry disease.

Anderson-Fabry disease (AFD) is an inborn error of glycosphingolipid metabolism that is due to a deficiency of the lysosomal hydrolase -galactosidase A ( -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 affected hemizygous males and to some extent in heterozygous (carrier) females. After a brief overview of the clinical features, this section of the supplement focuses on the biochemical and genetic basis of AFD.