Individuals who are found to have the defective gene can be treated before problems arise. The gene for Wilson disease can be defective in many different ways. Some, but not all, of these defects can be identified. Direct testing for these defects can aid in confirming or eliminating the diagnosis in patients with symptoms of the disease. Within the next few years, most of the specific gene defects should be identified.
Effective treatment is available even in advanced stages.
The toxic concentration of copper in the body must be removed and its re-accumulation prevented. This is done with the use of a de-coppering agent such as penicillamine or zinc. Treatment might also involve oral medication to increase copper excretion in the urine - like diuretics. Treatment also includes the elimination of copper containing foods such as chocolate and mushrooms. The treatment does not correct the fundamental flaw in liver function.