Fabry's disease causes: Difference between revisions
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*[[Fabry's disease]] is a genetically [[X linked inheritance|X - linked inherited disorder]] due to a mutation in the [[GLA|GLA gene]] which is responsible for [[Coding sequence|coding]] [[Lysosomal enzymes|lysosomal enzyme]] [[Galactosidases|alpha galactosidase A]]. | *[[Fabry's disease]] is a genetically [[X linked inheritance|X - linked inherited disorder]] due to a mutation in the [[GLA|GLA gene]] which is responsible for [[Coding sequence|coding]] [[Lysosomal enzymes|lysosomal enzyme]] [[Galactosidases|alpha galactosidase A]]. | ||
*The deficiency of the enzyme leads to build of [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|Gb3( Globotriaosylhexidase)]] in the [[Lysosomes|lysosomes.]] | *The deficiency 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 manifestations of [[fabry's disease]] that include skin, cardiac, renal and neurological involvement. | *These accumulations in various tissues leads to classic manifestations of [[fabry's disease]] that include skin, cardiac, renal and neurological involvement. | ||
Revision as of 17:41, 9 May 2022
Overview
- Fabry's disease is caused by a mutation in the GLA gene.
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Causes
- 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 deficiency 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.