Wilson Disease

Aleyshka Barbosa

What is the Wilson Disease ?

The Wilson disease is a genetic disorder that prevents the body from getting rid of unnecessary copper in the body. The human body only needs a small amount of copper to stay healthy, too much copper can be poisonous to the body. If the liver is unable to filter all of the extra copper than it spreads to the liver, eyes , brain, and other organs. If this does occur in some cases all of the copper in the body can lead to death because of organ failure that can be a product of all the copper in these regions.

More information on Wilson Disease symptoms

What causes Wilson Disease?

The NIH tells us " Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disease, although the child may inherit one copy of the gene mutation. The child is called a “carrier” of the disease and can pass the gene mutation to the next generation. Genetic testing is a procedure that identifies changes in a patient’s genes and can show whether a parent or child is a carrier of a mutated gene. Autosomal recessive diseases are typically not seen in every generation of an affected family."