Fabry's disease causes: Difference between revisions
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* The defeciency of the enzyme leads to build of [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|Gb3( Globotriaosylhexidase)]] in the [[Lysosomes|lysosomes.]] | * The defeciency of the enzyme leads to build of [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|Gb3( Globotriaosylhexidase)]] in the [[Lysosomes|lysosomes.]] | ||
* These accumulations in various tissues leads to classic [[fabry's disease]] | * These accumulations in various tissues leads to classic manifestations of [[fabry's disease]] that include skin, cardiac, renal and neurological involvement. | ||
==References== | ==References== | ||
Revision as of 23:17, 16 August 2020
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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 manifestations of fabry's disease that include skin, cardiac, renal and neurological involvement.