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Disorders of Galactose Metabolism

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Inborn Metabolic Diseases

Abstract

Three inborn errors of galactose metabolism are known. Galactokinase deficiency is the most insidious, since it results in the formation of nuclear cataracts without provoking symptoms of intolerance. Galactose-1-phosphate uridyltransferase deficiency exists in two forms. The complete or near-complete deficiency is life-threatening and affects not only the eye lens but also liver, kidney and brain. Partial deficiency is usually, if not always, benign. Uridine diphosphate (UDP)-galactose 4′-epimerase deficiency also exists in two forms. The very rare profound deficiency clinically resembles classical galactosemia. The more frequent partial deficiency is benign. Review articles are recommended for detailed information [1–3]. Fanconi-Bickel syndrome (Chap. 6) and portosystemic venous shunting are congenital errors of galactose transport leading to hypergalactosemia.

“Whenever you consider a galactose disorder, stop milk feeding first and only then seek a diagnosis!”

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Authors
  1. R. Gitzelmann
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Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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© 2000 Springer-Verlag Berlin Heidelberg

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Gitzelmann, R. (2000). Disorders of Galactose Metabolism. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_7

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

  • eBook Packages: Springer Book Archive

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