Fabry Disease Causes
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Causes of Fabry Disease
Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A (GALA, also known as ceramide trihexosidase). GALA usually works to clear fatty substances called glycosphingolipids from the body. However, in Fabry disease, the absence of GALA causes this fatty substance to accumulate in the blood and blood vessel walls. This leads to constriction of blood flow through the vessels. Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system.
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