Causes and Diagnoses

Causes and Diagnoses of Wilson Disease

Wilson disease is caused by an inherited change or abnormality (mutation) in the ATP7B gene. It is an autosomal recessive disorder. This means that 2 abnormal genes are required to cause the disease. Many times parents show no signs of the disease.

Diagnosing Wilson disease

Many of the symptoms of Wilson disease may look like symptoms of other diseases. To diagnose the condition, we will look at your overall health and ask about your past health. We will ask about your symptoms and give you a physical exam. Tests are helpful in confirming the diagnosis:

  • Eye exam: Your provider uses a special light to check for brown Kayser-Fleischer rings in your eyes.
  • Blood tests: These can check the copper level in your blood and also detect any liver problems.
  • 24-hour urine test: This measures the amount of copper in your urine over 24 hours.
  • Liver biopsy: A small sample of your liver is removed for testing.
  • Genetic testing: A blood test can identify the abnormal genes that cause Wilson disease.

Diagnostic Tests

Related Resources


Related Links

  • Autosomal Recessive Inheritance: Genes are the blueprints for making the substances, called proteins, our bodies need to develop and work properly. A mutation is a change in a gene that causes it to be different from the copy inherited from either parent.