Disorders of Galactose Metabolism

  • Gerard T. Berry
  • John H. Walter
Chapter

Abstract

Three inborn errors of galactose metabolism are known. The most important is classic galactosaemia caused by galactose-1-phosphate uridyltransferase (GALT) deficiency. A complete deficiency is life threatening with multiorgan involvement and long-term complications. 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 classic galactosaemia. 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.

Keywords

Newborn Screening Nuclear Cataract Galactose Metabolism Classical Galactosemia GALT Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Gerard T. Berry
    • 1
  • John H. Walter
    • 2
  1. 1.Division of GeneticsChildren’s HospitalBostonUSA
  2. 2.Biochemical Genetics Unit Genetic Medicine Manchester Academic Health Science CentreUniversity of Manchester Central Manchester University Hospitals NHS Foundation Trust St Mary’s HospitalManchesterUK

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