What are Menkes and Wilson's diseases?

Copper Imbalance Disorders: Understanding Menkes & Wilson’s Disease

Copper is a vital mineral that helps the body function properly. It plays a key role in brain development, maintaining healthy nerves, and supporting bones, skin, and blood vessels. However, when the body cannot handle copper properly, serious health problems can occur.

Menkes disease and Wilson’s disease are rare genetic diseases caused by the body’s inability to regulate copper levels, though in very different ways. Menkes disease prevents the body from absorbing and using copper, while Wilson’s disease causes dangerous copper buildup, especially in the liver and brain.

Understanding the causes, symptoms, diagnosis, and treatment options for Menkes and Wilson’s disease can help people recognise these conditions early and seek proper care. Read ahead to learn how these two copper-related disorders affect the body and how they differ from each other.

What is Menkes disease?

Menkes disease is a genetic disorder that affects how the body uses copper. The disease causes severe damage to the nervous system. Children with Menkes disease often have serious growth and development problems. There is no cure, but early treatment (within 4 weeks of birth) may improve symptoms and help children live longer.

What are the symptoms of Menkes disease?

Babies may be born prematurely but appear healthy at birth. Symptoms often begin at 2 to 3 months of age and include:

• Kinky, brittle hair (light-coloured, white, or grey)
• Floppy muscles (hypotonia)
• Low body temperature (hypothermia)
• Saggy or weak facial features
• Seizures
• Slow growth and poor weight gain
• Yellowish skin and eyes (jaundice)
   

What are the causes of Menkes disease?

This disease is caused by an abnormal gene called ATP7A. The gene affects the body’s ability to transfer copper where it’s needed. About two-thirds of cases are inherited from the child’s mother. Menkes disease is an X-linked genetic disorder.
 

How is Menkes disease diagnosed?

Doctors may use the following measures to diagnose the condition:

• Physical Exam—especially by examining your hair.
• Blood Tests – check for:
  
  • Low copper levels
  • Low ceruloplasmin (a copper-carrying protein)
  • Low catecholamine hormones
• CT Scan or X-ray – to detect twisted skull bones (wormian bones)
• Skin Biopsy – checks how well the skin handles copper
• Ultrasound – checks for bladder issues (diverticula)
• Urine Test – diagnoses for changes in acids related to copper enzyme activity
   

What is the treatment for Menkes disease?

The treatment for Menkes disease involves subcutaneous (under-the-skin) injections of copper histidine. It increases copper levels in the blood, slowing nerve damage, reducing seizures, and extending life. The severity of the gene mutation determines how well treatment works. Treatment is most effective when initiated neonatally, but partial benefits may occur if started later.

Does Menkes disease affect males or females?

Menkes disease primarily affects males because it is inherited through an X-linked recessive pattern. Females often carry the defective gene without exhibiting symptoms since their second, normal X chromosome usually compensates. Symptoms in females are uncommon and typically occur only if both X chromosomes carry the mutation.

What is Wilson's disease?

Wilson's disease is a condition present from birth, but symptoms may develop later as copper accumulates in the body over time. The symptoms vary depending on the organs involved and can include feeling extremely tired and experiencing a loss of appetite.

What are the symptoms of Wilson's disease?

Symptoms depend on which parts of the body are affected. They can include:

• Feeling tired and a loss of appetite
• Yellow skin and eyes (jaundice)
• Brown or golden rings in the eyes (Kayser-Fleischer rings)
• Swelling in the legs or belly
• Trouble speaking, swallowing, or with balance
• Mood swings, depression, or personality changes
• Trouble falling asleep
• Muscle stiffness or shaking
   

What are the causes of Wilson's disease?

Wilson’s disease is inherited. The disease develops when the faulty gene from both your parents is passed down to you. This cycle can continue with you passing it on to your children.

How is Wilson's Disease Diagnosed?

Diagnosing Wilson’s disease can be tricky because symptoms look like other liver problems. Doctors use several tests to diagnose it, such as

• Blood and urine tests - Check liver function and copper levels.
• Eye Exam - An eye doctor looks for copper rings in your eyes using a special light.
• Liver Biopsy - A small piece of liver is removed with a needle to test for copper.
• Genetic Testing - A blood test can find the gene that causes the disease. It can also help test family members.

What is the treatment for Wilson's disease?

Doctors treat Wilson's disease using copper chelating agents (special medicines), which bind to excess copper in the body. The bound copper is then excreted through urine. After removing the excess copper, ongoing treatment is required to prevent copper buildup. If liver damage is severe, a liver transplant may be necessary.

What are the Similarities Between Menkes Disease & Wilson's Disease?

The table below represents the similarities between Menkes disease and Wilson’s disease:

Although Menkes disease and Wilson’s disease are rare, early diagnosis and proper treatment can improve outcomes. Children with Menkes disease may benefit from early copper treatment, while individuals with Wilson’s disease can often lead normal lives with lifelong medication and monitoring.

Regular health checkups, genetic counselling, and supportive medical care are essential in managing these disorders effectively. Reliable health insurance is crucial to safeguarding your family's health and financial well-being.

At Star Health, our insurance plans cover various medical conditions, including rare genetic disorders. We also provide hassle-free claim settlements with reduced turnaround time across over 14,000 network hospitals in India.

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