Galactosemia
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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: Sujaya Chattopadhyay, M.D.[2]
Synonyms and keywords: Classic galactosemia, galactokinase deficiency
Overview
Historical Perspective
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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. [3]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[4]
Classification
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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. [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
Risk Factors
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 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.
- 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.
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