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Pathway Description
Fabry Disease
Homo sapiens
Disease Pathway
Fabry disease, also called Anderson-Fabry disease is an X-linked inherited condition that begins in childhood. The symptoms are caused by the buildup of a substance called globotriaosylceramide in cells in the body, due to a mutation in the GLA gene, that causes a malfunction in the production of an enzyme called alpha-galactosidase A, which, when functioning properly, breaks down globotriaosylceramide. The symptoms include angiokeratomas, tinnitus, episodes of pain in the hands and feet and corneal opacity. This condition can also lead to severe complications such as heart attack, stroke and kidney damage.
References
Fabry Disease References
[Metagen: FABRY DISEASE](http://metagene.de/program/d.prg?id_d=533)
[OMIM: 301500](http://omim.org/entry/301500})
[NIH](http://ghr.nlm.nih.gov/condition/fabry-disease)
Mehta A, Hughes DA: Fabry Disease
Pubmed: 20301469
Taguchi A, Maruyama H, Nameta M, Yamamoto T, Matsuda J, Kulkarni AB, Yoshioka H, Ishii S: A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis. Biochem J. 2013 Dec 15;456(3):373-83. doi: 10.1042/BJ20130825.
Pubmed: 24094090
Sphingolipid Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
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