Galactosemia: Difference between revisions

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


==[[Galactosemia Risk Factors|Risk Factors]]==
__NOTOC__
{{Galactosemia}}
{{CMG}}; {{AE}} {{Sujaya}}
 
==Overview==
The major risk factor for [[galactosemia]] is the presence of the [[defective]] [[gene]](s).
 
==Risk factors==
{{CMG}} {{AE}} {{Sujaya}}
{{CMG}} {{AE}} {{Sujaya}}
===Overview===
 
The major risk factor for developing [[galactosemia]] is presence of the [[defective]] [[gene]].
===Risk Factors===
[[Galactosemia]] is an [[inherited]] [[autosomal]] [[recessive]] [[disorder]] of [[galactose]] [[metabolism]]. Two [[defective]] [[alleles]] are necessary to manifest the condition.
[[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]].
*Children born to [[carrier]] parents harboring the [[gene]](s) run the risk of developing [[galactosemia]].

Revision as of 15:55, 30 June 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

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. [3]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[4]

Classification

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. [5]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[6]

Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [7] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[8]

Causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [9] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[10]

Differentiating Galactosemia from other Diseases

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [11] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[12]

Epidemiology and Demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [13] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[14]

Screening

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. [15]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[16]

Overview

The major risk factor for galactosemia is the presence of the defective gene(s).

Risk factors

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [17] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[18]

Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. Two defective alleles are necessary to manifest the condition.

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

Template:Metabolic pathology

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