← All diseases

Inborn errors of metabolism

Wilson disease

An inherited disease in which copper builds up in the body, mostly in the liver, brain and eyes. Symptoms often begin in adolescence. Liver, nervous system and mental health problems may occur.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Inborn errors of metabolism” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The body cannot get rid of excess copper. Normally the liver removes excess copper through bile. In this disease, copper builds up mostly in the liver, brain and eyes. This build-up damages the tissues.

Which symptoms can occur?

Symptoms often begin between 6-45 years of age, most often in adolescence. They can be very different, even within the same family.

  • Liver problems (more common in young people)
  • Jaundice, tiredness, loss of appetite and a swollen belly
  • Trembling, clumsiness, difficulty walking and speaking (more common in adults)
  • Decline in thinking skills
  • Depression, anxiety and mood changes (sometimes)
  • A green-brown ring around the colored part of the eye (Kayser-Fleischer ring)

How is it diagnosed?

The diagnosis is made based on the symptoms and blood and urine tests. A protein that carries copper in the blood is low. Copper in the urine is found to be high. If needed, a sample is taken from the liver and a genetic test is done.

Treatment and care

There is no cure; the aim of treatment is to reduce the copper in the body. For this, medicines that bind copper, zinc and a low-copper diet are used. With severe liver damage, a liver transplant may be needed. With treatment started early and kept up regularly, most people can live a good life. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Some patients are found through family screening. Genetic counselling is recommended for brothers and sisters.

Source: MedlinePlus Genetics — Wilson disease · Orphanet — Wilson disease

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide) · Birth prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
Autosomal recessive
When does it usually start?
Childhood, Adolescence, Adulthood, Older age
Gene(s) involved
ATP7B

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Special diets and medical nutrition · Metabolic diet, blood monitoring, medical formula and SGK report, sick-day plan, tube feeding and swallowing problems, school meals, supplement warning
  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Wilson

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 14 active interventional studies for this disease. 7 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Inborn errors of metabolism: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:905 · ICD-11 5C64.00

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.