Fabry disease — A challenge for diagnosis and treatment

December 2008
Maedica - a Journal of Clinical Medicine;2008, Vol. 3 Issue 4, p270
Academic Journal
The article presents information on Fabry disease, a genetically inherited lysosomal storage disease which is characterized by intracellular and plasmatic accumulation of glycosphingolipids. The gene responsible for the disease is located on the X chromosome, due to which it has an X-linked recessive transmission. In Fabry disease, pain may occur daily in the hands and feet. It is stated that Fabry-related cardiovascular disease is the main cause of premature death. Gastrointestinal symptoms of Fabry disease include abdominal cramping and pain, diarrhea, constipation, nausea, and vomiting.


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