Fabry's disease causes
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- Fabry's disease is a genetically X - linked inherited disorder due to a mutation in the GLA gene which is responsible for coding lysosomal enzyme alpha galactosidase A.
- The defeciency of the enzyme leads to build of Gb3( Globotriaosylhexidase) in the lysosomes.
- These accumulations in various tissues leads to classic fabry's disease pathology like angiokeratoma, cardiac, renal and blood vessel accumulation.