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==[[Galactosemia historical perspective|Historical Perspective]]==
==[[Galactosemia historical perspective|Historical Perspective]]==
__NOTOC__
{{Galactosemia}}
{{CMG}}; {{AE}} {{Sujaya}}


==[[Galactosemia classification|Classification]]==
==[[Galactosemia classification|Classification]]==
__NOTOC__
{{Galactosemia}}
{{CMG}}; {{AE}} {{Sujaya}}


==[[Galactosemia pathophysiology|Pathophysiology]]==
==[[Galactosemia pathophysiology|Pathophysiology]]==
{{CMG}} {{AE}} {{Sujaya}}


==[[Galactosemia causes|Causes]]==
==[[Galactosemia causes|Causes]]==
{{CMG}} {{AE}} {{Sujaya}}


==[[Differentiating Galactosemia from other diseases|Differentiating Galactosemia from other Diseases]]==
==[[Differentiating Galactosemia from other diseases|Differentiating Galactosemia from other Diseases]]==
{{CMG}} {{AE}} {{Sujaya}}


==[[Galactosemia epidemiology and demographics|Epidemiology and Demographics]]==
==[[Galactosemia epidemiology and demographics|Epidemiology and Demographics]]==
{{CMG}} {{AE}} {{Sujaya}}


==[[Galactosemia screening|Screening]]==
==[[Galactosemia screening|Screening]]==


==[[Galactosemia Risk factors|Risk factors]]==
==[[Galactosemia Risk factors|Risk factors]]==
{{CMG}} {{AE}} {{Sujaya}}


===Overview===
==[[Galactosemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
The major risk factor for [[galactosemia]] is the presence of the defective [[gene]](s).
 
===Risk factors==
[[Galactosemia]] is an [[inherited]] [[autosomal]] [[recessive]] [[disorder]] of [[galactose]] [[metabolism]]. Two [[defective]] [[alleles]] are necessary to manifest the condition.
*Children born to [[carrier]] parents harboring the [[gene]](s) run the risk of developing [[galactosemia]].
* Therefore, every child born to [[carrier]] parents has a 25% chance of developing the [[disorder]].


==[[Galactosemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Galactosemia diagnosis|Diagnosis]]==


==Diagnosis==
[[Galactosemia history and symptoms|History and Symptoms]] | [[Galactosemia physical examination|Physical Examination]] | [[Galactosemia laboratory findings|Laboratory Findings]] |[[Galactosemia electrocardiography|Electrocardiography]]|[[Galactosemia chest xray| Chest XRay]]| [[Galactosemia ct scan|CT Scan]]| [[Galactosemia MRI|MRI]]|[[Galactosemia Echocardiography and Ultrasound|Echocardiography and Ultrasound]]| [[Galactosemia other imaging|Other Imaging]]| [[Galactosemia other diagnostic studies|Other Diagnostic Studies]]
[[Galactosemia history and symptoms|History and Symptoms]] | [[Galactosemia physical examination|Physical Examination]] | [[Galactosemia laboratory findings|Laboratory Findings]] | [[Galactosemia electrocardiogram|Electrocardiogram]] | [[Hashiomoto's thyroiditis chest x ray|Chest X Ray]] | [[Galactosemia CT|CT]] | [[Galactosemia MRI|MRI]] | [[Galactosemia echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Galactosemia other imaging findings|Other Imaging Findings]] | [[Galactosemia other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==[[Galactosemia treatment|Treatment]]==


[[Galactosemia medical therapy|Medical Therapy]] | [[Galactosemia surgery|Surgery]] | [[Galactosemia primary prevention|Primary Prevention]] | [[Galactosemia secondary prevention|Secondary Prevention]] | [[Galactosemia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Galactosemia future or investigational therapies|Future or Investigational Therapies]]
[[Galactosemia medical therapy|Medical Therapy]] | [[Galactosemia surgery|Surgery]] | [[Galactosemia primary prevention|Primary Prevention]] | [[Galactosemia secondary prevention|Secondary Prevention]] | [[Galactosemia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Galactosemia future or investigational therapies|Future or Investigational Therapies]]


==Case Studies==
==[[Galactosemia case studies|Case Studies]]==
[[Galactosemia case study one|Case #1]]
[[Galactosemia case study one|Case #1]]



Latest revision as of 15:04, 18 August 2022

Galactosemia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

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

Galactosemia On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Galactosemia

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Galactosemia

CDC on Galactosemia

Galactosemia in the news

Blogs on Galactosemia

Directions to Hospitals Treating Galactosemia

Risk calculators and risk factors for Galactosemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]

Synonyms and keywords: Classic galactosemia, galactokinase deficiency

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Screening

Risk factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings |Electrocardiography| Chest XRay| CT Scan| MRI|Echocardiography and Ultrasound| Other Imaging| Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Template:Metabolic pathology

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