What type of accumulation occurs in Fabry's Disease?

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In Fabry's Disease, the type of accumulation that occurs is ceramide trihexosides. This condition is caused by a deficiency of the enzyme alpha-galactosidase A, which is essential for the breakdown of certain lipids. When this enzyme is deficient, ceramide trihexosides, which are a type of glycosphingolipid, accumulate in various tissues, particularly in the endothelial cells of blood vessels, heart, kidneys, and skin.

The accumulation of ceramide trihexosides leads to a range of symptoms, including pain (often in the extremities), skin lesions known as angiokeratomas, and renal and cardiovascular complications. These manifestations are a direct result of the toxic effects of the accumulated substrate on cells and tissues.

Other options listed represent different storage disorders. Glucocerebrosides are associated with Gaucher's disease, sphingomyelin is associated with Niemann-Pick disease, and GM2 gangliosides are related to Tay-Sach's disease and Sandhoff disease. Hence, they do not pertain to Fabry's Disease, which distinctly features the accumulation of ceramide trihexosides.

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