What is it?

Wilson disease is a rare genetic disorder that results from an inability to remove excess copper from the body. Too much copper in the body can lead to liver disease as well as neurological (brain) issues.1

What causes it?

People with Wilson disease have a mutation in the ATP7B gene. This gene provides instructions for the body to make a protein that carries copper from the liver to other parts of the body. The same protein also removes copper from the body. Copper is important to some body functions, but too much of it can be poisonous and cause the problems associated with Wilson disease.1

What are some of the common symptoms?1

  • Copper deposits in the eyes (Kayser-Fleischer ring)
  • Difficulty walking
  • Abnormal movements
  • Feeling tired
  • Jaundiced (yellow) skin and eyes
  • Liver disease
  • Problems with speaking

How many people have it?

It is estimated that 1 in 30,000 people worldwide have Wilson disease.

Common Names for Wilson Disease1

  • Copper storage disease
  • Hepatolenticular degeneration syndrome
  • Wilson’s disease

1Wilson disease. Nation Institutes of Health: Genetics Home Reference Website. https://ghr.nlm.nih.gov/condition/wilson-disease#. Published May 28, 2019. Accessed June 5, 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact patientadvocacy@ultragenyx.com.