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What is Premature atherosclerosis causing death is seen in: and explain in detail?
Fabry's disease is an X-linked dominant disorder. Angiokeratoma corporis diffusum is another name for it. Neuropathy usually stas in the childhood. It is overshadowed by complications arising from the associated premature atherosclerosis that lead to death by the fifth decade of life. ALSO KNOW: Fabry's disease is caused by mutations in the Alpha -galactosidase gene. There will be accumulation of ceramide trihexoside in nerves and blood vessels. Enzyme replacement therapy with alpha galactosidase B may be useful in the early stages. Ref: Harrison, Edition-18, Page-3456