Wilson’s Disease — Hepatolenticular Degeneration the Importance of Early Diagnosis
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.
KeywordsSerum Uric Acid Level Slit Lamp Examination Heterozygous Carrier Serum Ceruloplasmin Uric Acid Excretion
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