Wilson Disease
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Wilson Disease is an inherited disorder of copper metabolism in which copper accumulates to toxic levels in the liver, brain, and other organs. Named after the British neurologist Samuel Alexander Kinnier Wilson who first described it in 1912, the condition affects approximately 1 in 30,000 people worldwide. When diagnosed and treated early, it is one of the few genetic diseases that can be effectively managed with lifelong therapy.
The liver is usually the first organ affected, with symptoms potentially appearing as early as age 3. Liver presentations include acute hepatitis, chronic liver disease, and fulminant hepatic failure. In some patients, the first sign is neurological or psychiatric, typically appearing in the second or third decade of life. Neurological symptoms include tremor, difficulty speaking and swallowing, dystonia, and parkinsonian features.
Psychiatric symptoms may precede or accompany physical symptoms and include personality changes, depression, anxiety, and psychosis. A classic sign is the Kayser-Fleischer ring—a golden-brown ring around the cornea visible on slit-lamp examination, caused by copper deposition. This finding is present in nearly all patients with neurological symptoms but may be absent in those with only liver involvement.
Wilson disease is caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase needed to export excess copper from hepatocytes. The condition is inherited in an autosomal recessive pattern. Treatment involves lifelong copper-chelating agents (D-penicillamine, trientine) or zinc supplementation to reduce copper absorption. Dietary restriction of copper-rich foods is also recommended. Liver transplantation is curative for patients with fulminant liver failure or those who don't respond to medical therapy.
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