Multiple symptoms: Fabry disease is an inherited condition that occurs more frequently in males and leads to buidup of a certain type of fat in the body's cells. Symptoms can include pain in the extremities, hearing problems, gastrointestinal difficulties and blindness due to clouding of the corneas.
Answered 7/20/2012
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Many: Fabry's is an inherited deficiency of alpha-galactosidase metabolism, more common in males but rare overall. The most common findings are angiokeratomas of the skin, peripheral pain in the extremities, and corneal deposits (vortex) which occasionally diminish vision but do not lead to blindness. There are a lot of gi, heart and other problems. A pricey enzyme is available for treatment.
Answered 8/13/2016
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