Wilsons Disease

Wilson's disease pathophysiology

Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. The pathogenesis of hepatic and neurologic Wilson disease is a direct consequence of copper accumulation.

Wilson's disease statistics

The frequency of this mutation in random DNA samples from 2601 US Caucasian newborns to be 0.285%. Multiplying by three gives an expected Wilson's disease heterozygote frequency of 0.855% and an allele frequency of 0.428%, or 0.00428.

Wilson's disease treatment

Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine® and Depen®) and trientine (Syprine® and Trientine Dihydrochloride).

Major research on Wilson's disease

In USA the Wilson Disease Association is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Wilson disease.