Fabry Disease
Fabry disease is a rare, inherited genetic disorder caused by the buildup of a fatty substance in the body's organs and tissues. It is a glycosphingolipid lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Symptoms include abdominal pain, kidney complications, decreased sweating, and tingling and burning sensations in the hands and feet. Treatment includes enzyme replacement therapy, symptomatic treatments such as pain relievers, and dietary changes. Left untreated, Fabry disease can lead to organ failure and death. Early diagnosis and proper treatment can help to improve quality of life and possibly extend lifespan.
← International Journal of Lipids