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Wilson disease
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Wilson disease, also called hepatolenticular degeneration, is a rare disorder inherited in an autosomal recessive pattern: you have to get the altered gene from both parents. The gene is ATP7B, and when it is mutated the body accumulates copper in the liver and in the brain.
The problem is not with copper coming in but with copper getting out. When the mechanism that excretes it fails, the surplus builds up in the liver and from there spills into the blood, which carries it to other tissues. Copper comes in as it always does, but the way out is blocked and it stays inside.
That extra copper does chemical damage. It generates a toxic hydroxyl group that raises oxidative stress, a kind of accelerated rusting inside the cells, and in doing so it injures tissue. The buildup can also leave Kayser-Fleischer rings, colored halos deposited in the cornea, the clear layer at the front of the eye.
In brief
Wilson disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene that lead to copper buildup in the liver and brain.
When excretion fails, the excess copper builds up in the liver and spills into the blood and other tissues.
Copper comes in as it always does, but the way out is blocked and it stays inside.
That excess generates a toxic hydroxyl group that raises oxidative stress and damages tissue, and it can produce Kayser-Fleischer rings in the cornea.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingWilson Disease, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated