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Disorders of Galactose Metabolism

  • Chapter
Inborn Metabolic Diseases

Abstract

Three inborn errors of galactose metabolism are known. The most important is classic galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency. A complete or near-complete deficiency is life threatening with multiorgan involvement and long-term complications [1]. Partial deficiency is usually, but not always, benign. Uridine diphosphate galactose 4-epimerase (GALE) deficiency exists in at least two forms. The very rare profound deficiency clinically resembles classical galactosemia. The more frequent partial deficiency is usually benign. Galactokinase (GALK) deficiency is extremely rare and the most insidious, since it results in the formation of nuclear cataracts without provoking symptoms of intolerance. The Fanconi- Bickel syndrome (Chap. 11) is a congenital disorder of galactose transport due to GLUT2 deficiency leading to hypergalactosemia. Other secondary causes of impaired liver handling of galactose in the neonatal period are congenital portosystemic shunting and multiple hepatic arteriovenous malformations.

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Authors and Affiliations

  1. Division of Pediatrics, Thomas Jefferson University, 1025 Walnut Street, Suite 102 College, Philadelphia, PA, 19107-5083, USA

    Gerard T. Berry

  2. J. Stokes Jr Research Institute, Children’s Hospital of Philadelphia, 34th & Civic Centre Boulevard, Philadelphia, PA, 19104, USA

    Stanton Segal

  3. Division of Metabolism and Molecular Pediatrics, University Children’s Hospital, Steinwiesstr. 75, 8032, Zürich, Switzerland

    Richard Gitzelmann

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  1. Gerard T. Berry
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  2. Stanton Segal
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  3. Richard Gitzelmann
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital Groningen, Burgemeester Weertslaan 31, 8162 DP, Epe, The Netherlands

    John Fernandes

  2. Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75043, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Avenue Hippocrate 75-39, 1200, Brussels, Belgium

    Georges van den Berghe

  4. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK

    John H. Walter

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Berry, G.T., Segal, S., Gitzelmann, R. (2006). Disorders of Galactose Metabolism. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_7

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