Fabry's disease causes: Difference between revisions
Jump to navigation
Jump to search
Created page with "__NOTOC__ {{Fabry's disease}} Please help WikiDoc by adding content here. It's easy! Click here to learn about editing. ==References== {{Refl..." |
Neepa Shah (talk | contribs) No edit summary |
||
| Line 3: | Line 3: | ||
{{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]]. | |||
* 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]] pathology like [[Angiokeratomas|angiokeratoma]], [[cardiac]], [[renal]] and [[Blood vessels|blood vessel]] accumulation. | |||
==References== | ==References== | ||
Revision as of 12:43, 25 July 2020
|
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 |
- 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.