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: Dayana Davidis, M.D. [2]
Synonyms and keywords: Classic galactosemia, galactokinase deficiency
Overview
Historical Perspective
Von Ruess in a 1908 publication entitled Sugar Excretion In Infancy reported on a breast fed infant with hepatomegaly and spleen enlargement, failure to thrive and galactosuria.
Goppert first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.
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 | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention