Copper plays a vital role in the body by supporting the immune system, forming red blood cells, aiding iron absorption, and helping in energy production. It also contributes to brain development, connective tissue health, and antioxidant defense. However, too much copper—often due to supplements or genetic conditions like Wilson's disease—can be harmful. Excess copper may accumulate in the liver, brain, and other organs, causing symptoms like nausea, abdominal pain, fatigue, and mood changes. In severe cases, it can lead to liver damage, kidney problems, or neurological issues. Maintaining the right balance is key for overall health and proper body function.
Wilson's disease is a serious but rare genetic condition due to copper accumulation within the body. This disease, affecting approximately one in 30,000 individuals across the globe, can cause liver and neurological destruction if untreated. It is essential to be aware of the causes, signs, and treatments for Wilson's disease to allow early diagnosis and management.
Recently, a neurologist shared the medical condition of a woman who had Wilson's disease. "Magnetic Resonance Imaging (MRI) of the brain demonstrated hyperintense signal changes in the pons, midbrain, and lentiform nuclei—findings typically associated with Wilson’s disease. Based on clinical presentation, ocular findings, and characteristic MRI changes, a diagnosis of Wilson’s disease was made despite normal ceruloplasmin levels. In Wilson’s disease, there is accumulation of excess copper in liver, eyes and brain," he posted on X.
Another neurologist, shared a different case where a young patient presenting neuropsychiatric symptoms. "Wilson's disease! Defective ATP7B intracellular copper transporter with accumulation of copper in various organs. Consider in a young patient presenting with neuropsychiatric symptoms. Often affects the basal ganglia and thalami (with swelling acutely that later progresses to atrophy) and the midbrain and pontine tegmentum (look at the sparing of the central tegmental tracts here). Excessive ganglionic mineralisation is also common. Remember caeruloplasmin will be low!," he has posted on X.
What causes Wilson's disease?
Wilson's disease is a genetic disorder caused by mutations in the gene known as ATP7B. This gene ensures that the body maintains copper balance. Normally, the liver digests excess copper and eliminates it in the bile. In Wilson's disease, though, the defective gene stops the liver from removing copper, allowing it to build up in great amounts in the liver, brain, and other organs, ultimately causing poisoning and harm.
Because Wilson's disease is an autosomal recessive condition, one must inherit two copies of the defective gene—one from each parent—to become affected. People who inherit one defective gene are carriers but do not have symptoms.
Symptoms of Wilson's disease may vary depending on which organs are involved. Symptoms usually appear from between the ages of 5 and 35, although they may appear earlier or later.
Symptoms related to the liver:
Neurological and psychiatric symptoms:
One of the classic signs of Wilson's disease is the finding of Kayser-Fleischer rings—a greenish-brown coloration around the cornea resulting from copper deposits. The rings are usually found by an eye exam.
Individuals with Wilson's disease should avoid foods rich in copper, such as:
Wilson's disease is a serious but rare genetic condition due to copper accumulation within the body. This disease, affecting approximately one in 30,000 individuals across the globe, can cause liver and neurological destruction if untreated. It is essential to be aware of the causes, signs, and treatments for Wilson's disease to allow early diagnosis and management.
Recently, a neurologist shared the medical condition of a woman who had Wilson's disease. "Magnetic Resonance Imaging (MRI) of the brain demonstrated hyperintense signal changes in the pons, midbrain, and lentiform nuclei—findings typically associated with Wilson’s disease. Based on clinical presentation, ocular findings, and characteristic MRI changes, a diagnosis of Wilson’s disease was made despite normal ceruloplasmin levels. In Wilson’s disease, there is accumulation of excess copper in liver, eyes and brain," he posted on X.
Young woman who seemed to dance while walking: Evaluation revealed a treatable disease
— Dr Sudhir Kumar MD DM (@hyderabaddoctor) April 8, 2025
➡️A 21-year-old woman was brought for evaluation. She was noted by her parents to dance while walking for the past 4 years. In addition, her voice was not clear at times. She had no psychiatric… pic.twitter.com/93kpOgPV4N
Another neurologist, shared a different case where a young patient presenting neuropsychiatric symptoms. "Wilson's disease! Defective ATP7B intracellular copper transporter with accumulation of copper in various organs. Consider in a young patient presenting with neuropsychiatric symptoms. Often affects the basal ganglia and thalami (with swelling acutely that later progresses to atrophy) and the midbrain and pontine tegmentum (look at the sparing of the central tegmental tracts here). Excessive ganglionic mineralisation is also common. Remember caeruloplasmin will be low!," he has posted on X.
Wilson's disease! Defective ATP7B intracellular copper transporter with accumulation of copper in various organs. Consider in a young patient presenting with neuropsychiatric symptoms. Often affects the basal ganglia and thalami (with swelling acutely that later progresses to… pic.twitter.com/6xeEMslrNF
— Jack Garnham (@jjgarnham) April 9, 2025
What causes Wilson's disease?
Wilson's disease is a genetic disorder caused by mutations in the gene known as ATP7B. This gene ensures that the body maintains copper balance. Normally, the liver digests excess copper and eliminates it in the bile. In Wilson's disease, though, the defective gene stops the liver from removing copper, allowing it to build up in great amounts in the liver, brain, and other organs, ultimately causing poisoning and harm.
Because Wilson's disease is an autosomal recessive condition, one must inherit two copies of the defective gene—one from each parent—to become affected. People who inherit one defective gene are carriers but do not have symptoms.
Symptoms of Wilson's disease may vary depending on which organs are involved. Symptoms usually appear from between the ages of 5 and 35, although they may appear earlier or later.
Symptoms related to the liver:
- Fatigue
- Jaundice (yellow color of skin and eyes)
- Abdominal pain and swelling
- Unexplained bruising or bleeding
- Swelling of the legs and feet
- Liver failure in advanced cases
Neurological and psychiatric symptoms:
- Tremors or uncontrolled movements
- Speech and swallowing difficulties
- Poor coordination and muscle stiffness
- Changes in personality, depression, or anxiety
- Cognitive impairment or memory problems
One of the classic signs of Wilson's disease is the finding of Kayser-Fleischer rings—a greenish-brown coloration around the cornea resulting from copper deposits. The rings are usually found by an eye exam.
Individuals with Wilson's disease should avoid foods rich in copper, such as:
- Shellfish
- Liver and organ meats
- Nuts and seeds
- Chocolate
- Mushrooms
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