Ryan and Jesse


Fabry Disease Intro

Fabry Disease is an inherited disorder that results from the buildup of a particular type of fat, called gyclotriaosylceramide, in the body's cells. The disease causes signs and symptoms that affect many parts of the body. It causes pain that can be found in your feet and hands. Some more effects of the disease are clusters of dark red spots on your skin, decreased ability to sweat, cloudiness in the eye, ringing in the ears, gastrointestinal, and hearing loss. It also causes kidney damage, heart attack, and strokes. There are also milder versions of this disease that only affect the heart or kidneys. Fabry disease affects about 1 in 40,000-60,000 males. This also occurs in females but, its even less often.

What Causes/ Molecular Basis of Fabry Disease

Fabry Disease occurs due to a bad(faulty) gene. When the gene is faulty, the enzyme it controls is defective. This occurs in the a-Gal A. An a-Gal A is an enzyme that controls biochemical reactions in the body. A-Gal A breaks down the complex lipid globotriaosylceramide (GL-3). This lipid is the supposed cause of the symptoms of Fabry Disease. "It can be caused by a missense mutation, nonsense mutation, partial gene deletions, insertion, or RNA processing defects."


Painful burning sensation


Decreased ability to perspire

Corneal deposits

Clinical course


In the treatment for Fabry Disease, it is an enzyme replacement therapy. It provides the enzyme that the person is missing as a result of a genetic malfunction. The average cost of this is $200,000 in the US per patient. Now, this doesn't gaurentee to be a cure but it will show a lot of improvement and prevent the disease progression.


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