Fabry disease (FD) is caused by an X-linked deficiency in the activity of alpha-galactosidase A and the resultant accumulation of globotriaosylceramide (Gb3) in multiple tissues. Nearly all classically affected males with FD experience kidney dysfunction, with progression to end-stage renal disease (ESRD) in the third decade of life or shortly thereafter.
Department of Neurology, New York University School of Medicine, 403 East 34th Street, New York, NY 10016, and St. Louis Children's Hospital, MO, USA. gregory.pastores@med.nyu.edu
