A diagnosis of Fabry gastrointestinal disease by chance: a case report.

@article{Feriozzi2007ADO,
  title={A diagnosis of Fabry gastrointestinal disease by chance: a case report.},
  author={S Feriozzi and Elena Sanz Torre and Teresa Valentina Ranalli and Paolo Cardello and Amelia Morrone and Enzo Ancarani},
  journal={European journal of gastroenterology & hepatology},
  year={2007},
  volume={19 2},
  pages={163-5}
}
Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A. This determines an accumulation of globotriaosylceramide within lysosomes. The clinical picture is highly variable and depends on cellular storage deposition. Renal, cardiac and nervous system are the most frequent organs involved. Gastrointestinal… CONTINUE READING