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What is All are TRUE about Fabry disease, EXCEPT: and explain in detail?
Fabry disease (angiokeratoma corporis diffusum) is an X-linked dominant disorder. Angiokeratomas are reddish-purple maculopapular lesions that are usually found around the umbilicus, scrotum, and perineum. Premature atherosclerosis is a feature that often lead to death by the fifth decade of life. Some patients also manifest a dilated cardiomyopathy. Fabry disease is due to mutations in the Alpha-galactosidase gene that leads to the accumulation of ceramide trihexoside in nerves and blood vessels. Retinitis pigmentosa is not a feature of Fabry, it is a feature of Refsum disease. Refsum disease can manifest with the classic tetrad of (1) peripheral neuropathy, (2) retinitis pigmentosa, (3) cerebellar ataxia, and (4) elevated CSF protein concentration.