Fabry disease is a metabolic disorder. It is caused by low levels of an enzyme called alpha galactosidase-A. This enzyme is needed to break down fatty substances. Because there are low levels of this enzyme, the fatty substances build up the blood and blood vessels. The build up slows or blocks blood flow to the organs. It can cause problems in the skin, kidneys, heart, and nervous system.
Fabry disease is caused by a problems in the genes. The specific genes that create the enzymes are faulty. The faulty gene is inherited from the parents.
Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms but they can pass the gene to their offspring. However, some women do have symptoms. On occasion, women may be as severely affected as men.
Last reviewedNovember 2012by Michael Woods, MD
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