Fabry Disease Research Paper

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Fabry disease is a rare inherited x-linked lysosomal storage disorder. Mutations of the X chromosome result in deficiency of the lysosomal enzyme called alpha-galactosidase A. The lysosomes function as the recycling centres of the cell and they contain digestive enzymes that break down substances into smaller compounds. A deficiency in this enzyme results in progressive accumulation of globotriaosylceramide in lysosomes, which leads to organ damage and premature death in men and women. It causes damage to various organs and tissues

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