The Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alpha-galactosidase A. This causes a derangement of the degradation of many glycosphingolipids with the intra-lysosomal accumulation, mainly globotriaosylceramide (Gb3).
Citation: Cristi E, Massari A, Ranalli TV, Gomes VV, Giannakakis K, et al. (2014) Ileocecal Appendix Involvement in Fabry Disease Mimicking an Acute Abdomen. J Gastrointest Dig Syst 4:239. doi: 10.4172/2161-069X.1000239