Wilson’s Disease — Hepatolenticular Degeneration the Importance of Early Diagnosis

  • Andrew Sass-Kortsak
Part of the Hepatology book series (H, volume 5)


Wilson’s disease is a genetically determined disease, due to a defect in a single gene (1). Both parents are heterozygous carriers of this abnormal gene and never develop any signs or symptoms of Wilson’s disease. However, their children have a 1:4 chance of being homozygous and thus having Wilson’s disease. They also have a 1:2 chance of being heterozygous carriers like their parents and a 1:4 chance of being homozygous normal (2). All this is characteristic of an autosomal recessive form of inheritance.


Serum Uric Acid Level Slit Lamp Examination Heterozygous Carrier Serum Ceruloplasmin Uric Acid Excretion 
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Copyright information

© Plenum Press, New York 1983

Authors and Affiliations

  • Andrew Sass-Kortsak
    • 1
    • 2
  1. 1.Department of Paediatrics, Faculty of MedicineUniversity of TorontoCanada
  2. 2.the Research InstituteThe Hospital for Sick ChildrenTorontoCanada

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