Molecular Genetics of Wilson Disease

Wilson disease (WD) or "hepatolenticular degeneration" is an autosomal recessive disorder of copper (Cu) transport. Early diagnosis and treatment with copper-chelating agents (penicillamine) or by blocking intestinal Cu absorption (zinc salts) are essential to prevent Cu accumulation and irreversible damage to tissues such as liver and brain. Diagnosis is usually based on low ceruloplasmin and plasma copper, increased copper excretion in urine, and copper deposits in the cornea (Kayser-Fleisher ring) and liver. However, wide variations may occur in the biochemical tests and sometimes diagnosis is not entirely reliable.