Wilson Disease

What is Wilson disease?

Wilson disease is caused by the body not making a specific protein that is important for moving copper around inside the body. Our bodies need small amounts of copper for healthy development. In Wilson disease, too much copper builds up in the kidneys, liver and brain. The signs and symptoms of Wilson disease include liver disease, nervous system problems (such as difficulty walking and speech problems), and sometimes psychiatric issues such as anxiety and depression. These symptoms can appear as early as childhood, or as late as advanced adulthood.

How common is Wilson disease?

Wilson disease affects about 1 in every 30,000 babies born each year in the United States.

What can be done for Wilson disease?

Identifying this condition early is essential, and can lead to reduced symptoms and an improved quality of life. Certain symptoms of this condition can be lessened (or prevented) by giving special copper chelating injections (shots) which help the body break down extra copper, or taking a medication by mouth that helps prevent the body from absorbing the copper found in foods. People with Wilson disease will need these treatments throughout life.

How is Wilson disease inherited?

Wilson disease is caused by changes in the ATP7B gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the ATP7 gene, one from each parent, in order to have the disease. People who have only one copy of the altered ATP7 gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for Wilson disease through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://rarediseases.org/rare-diseases/wilson-disease/
https://www.ncbi.nlm.nih.gov/books/NBK1512/
https://ghr.nlm.nih.gov/condition/wilson-disease#diagnosis

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