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Fabry disease (fah´bre)   ain inherited form of sphingolipidosis, caused by a recessive gene located on the X chromosome, in which the glycolipid trihexosyl ceramide is deposited in various tissues, especially the kidneys; the deficient enzyme is α-galactosidase A. It is marked by purpuric skin lesions (angiokeratomas), central nervous system symptoms, and death due to progressive renal failure.




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