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{{Fabry's disease}}
{{Fabry's disease}}


{{CMG}} {{AE}}  
{{CMG}} {{AE}} {{GhazalS}}


==Overview==
==Overview==
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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:Needs english review]]
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Latest revision as of 18:02, 14 July 2022

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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.

Fabry's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fabry's disease causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fabry's disease causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fabry's disease causes

CDC on Fabry's disease causes

Fabry's disease causes in the news

Blogs on Fabry's disease causes

Directions to Hospitals Treating Fabry's disease

Risk calculators and risk factors for Fabry's disease causes

Causes

References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". PMID 20301469.