Fabry's disease causes: Difference between revisions
Jump to navigation
Jump to search
Ghsanadgol (talk | contribs) No edit summary |
|||
| Line 1: | Line 1: | ||
__NOTOC__ | == Overview == | ||
: Fabry's disease is caused by a mutation in the [[GLA gene]].__NOTOC__ | |||
{{Fabry's disease}} | {{Fabry's disease}} | ||
* [[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]]. | == Causes == | ||
*[[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 | *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. | ||
==References== | ==References== | ||
Revision as of 18:49, 15 April 2022
Overview
- Fabry's disease is caused by a mutation in the GLA gene.
|
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 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.