Fabry disease is a disease in which the human body's lysosomes cannot break down certain fats. A lysosomal storage disorder to be exact. This particular mutation occurs inside the alpha-galactosidase gene and it produces a globotriaosylceramide which can be very dangerous. When these lysosomes cannot break down the fat, it will cause them to be able to build up along with other harmful substances inside these lysosomal cells throughout the body. This disease was first discovered in 1989 by William Anderson and Johann Fabry.
Symptoms of this disease can be, periods of pain, cloudiness of the frontal part of the eye(cornea), small dark red spots on the skin known as angiokeratomas, decreased sweating, and loss of hearing. More sever cases can include, strokes, heart attacks, and kidney damages.
It is estimated that 40,000-60,000 men are affected by Fabry Disease. Women are affected too but the estimated rate is currently unknown. Men tend to have more severe cases than women.
Fabry disease is treated with an enzyme replacement therapy. To help with the symptoms, medication will be given. In extreme cases, the patient must have a kidney transplant.
The genetic inheritance of the disease is dominant because only the X chromosome is needed for this disease. Because men only have one X chromosome, the disease will usually be more sever than for women. Women contain two X chromosomes which is why their cases are not seen or not to harmful.
Fabry disease is diagnosed from how much alpha-Gal activity is happening in the body.
Methods being used currently to help treat the disease are Gene therapy and small molecule approaches. Gene therapy includes using the direct appliance of the alpha-galctosidase gene with changed viral vectors to try and adjust the human lung or liver. Small molecule approaches include substrate inhibition therapy. It is used to cut down on cellular synthesis of the glycosphingolipids.
Works Cited
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U.S. Department of Health and Human Services. "Fabry." Baby's first test, The Newborn Screening Cleaning House, 2017, www.babysfirsttest.org/newborn-screening/conditions/fabry. Accessed 5 Feb. 2017.
U.S. Department of Health and Services. "Fabry Disease." Genetics Home Reference, U.S national library of medicine, 31 Jan. 2017, ghr.nlm.nih.gov/condition/fabry-disease#diagnosis. Accessed 5 Feb. 2017.