Galactosemia: Difference between revisions
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==[[Galactosemia historical perspective|Historical Perspective]]== | ==[[Galactosemia historical perspective|Historical Perspective]]== | ||
==[[Galactosemia | __NOTOC__ | ||
{{Galactosemia}} | |||
{{CMG}}; {AE} | |||
==Classification== | |||
==Overview== | |||
[[Galactosemia]] refers to a group of [[autosomal recessive]] disorders of [[galactose]] [[metabolism]]. They are classified into the following types based on the enzymatic activity: | |||
===Classical=== | |||
Severe deficiency or absence of the RBC | |||
==[[Galactosemia pathophysiology|Pathophysiology]]== | ==[[Galactosemia pathophysiology|Pathophysiology]]== | ||
Revision as of 06:07, 10 May 2022
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia On the Web |
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American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Synonyms and keywords: Classic galactosemia, galactokinase deficiency
Overview
Historical Perspective
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Galactosemia Microchapters |
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Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Galactosemia On the Web |
|
American Roentgen Ray Society Images of Galactosemia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; {AE}
Classification
Overview
Galactosemia refers to a group of autosomal recessive disorders of galactose metabolism. They are classified into the following types based on the enzymatic activity:
Classical
Severe deficiency or absence of the RBC
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