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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 a build up 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.<ref name="pmid20301469">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301469 | doi= | pmc= | url= }}</ref> | *These accumulations in various tissues leads to classic manifestations of [[fabry's disease]] that include skin, cardiac, renal, and neurological involvement.<ref name="pmid20301469">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301469 | doi= | pmc= | url= }}</ref> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category: | [[Category:Up to Date]] | ||
Latest revision as of 18:02, 14 July 2022
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Fabry's disease Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fabry's disease causes On the Web |
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American Roentgen Ray Society Images of Fabry's disease causes |
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Risk calculators and risk factors for Fabry's disease causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
- Fabry's disease is caused by a mutation in the GLA gene.
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Fabry's disease Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Fabry's disease causes On the Web |
|
American Roentgen Ray Society Images of Fabry's disease causes |
|
Risk calculators and risk factors for Fabry's disease causes |
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 a build up 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.[1]