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