Menkes Disease

What is Menkes disease?

Menkes disease is a genetic condition that affects how your body uses copper. You need copper to help body systems work as they should, including your:

• Nervous system (brain and nerves).
• Bones.
• Hair.
• Skin.
• Blood vessels.

Menkes disease can lead to severe damage to your child’s nervous system. Children with the disease generally can’t grow and thrive, and the disease is fatal. Because crinkly hair is a common early sign, some people call it kinky hair disease.

There isn’t a cure for Menkes disease. Receiving treatment with copper within the first four weeks of life may improve symptoms and extend your child’s lifespan.

How common is Menkes disease?

Experts have thought Menkes disease affects about one of every 100,000 to 250,000 live births worldwide.

But a 2020 study conducted using the Genome Aggregation Database predicts a higher rate of Menkes disease. It suggests that about 1 of 8,664 male births in the U.S., or 225 babies each year, have the condition.

In the future, a screening study of newborns could help confirm these numbers. Screening could lead to earlier Menkes disease diagnosis and treatment.

Who might get Menkes disease?

More boys than girls have Menkes disease. It affects people of all ethnicities.

What are the symptoms of Menkes disease?

Babies with Menkes disease may be born prematurely (early). At birth, they usually seem healthy.

The first symptoms start to appear at about 2 to 3 months of age and may include:

• Kinky hair (crinkly hair) that’s light-colored, white or gray and breaks easily.
• Floppy muscle tone (hypotonia).
• Low body temperature (hypothermia).
• Saggy facial features.
• Seizures (epilepsy).
• Slow growth and weight gain (failure to thrive).
• Yellowish skin and eyes (jaundice).

Symptoms vary from person to person. Symptoms may appear later in childhood or early adulthood, though only in rare cases.

What are the complications of Menkes syndrome?

Menkes syndrome is a neurodegenerative disorder. It causes brain and cognitive (thinking) problems that worsen over time. Children and adults with Menkes disease may have:

• Brain bleeding problems, such as subdural hematomas.
• Bulging pouches in bladder or digestive tract walls (diverticulosis).
• Excessive small bones (wormian bones) in their skull.
• Loss of coordinated movement (motor skills).
• Low bone density (osteoporosis) that can lead to bone fractures.
• Twisted blood vessels (arterial tortuosity syndrome).

If children experience brain bleeding and broken bones, healthcare providers might worry about possible child abuse. Talk with your healthcare provider about Menkes disease testing if you know your child lives in a safe environment but has these symptoms.

What is occipital horn syndrome?

Occipital horn syndrome (OHS) is a milder form of Menkes disease. Its effects are less severe. Healthcare providers usually diagnose it when a child is between the ages of 5 and 10.

In addition to milder Menkes disease symptoms, OHS may cause:

• Occipital horns, calcium deposits at the skull base.
• Dysautonomia, a nervous system problem that can cause issues with blood pressure and balance.
• Loose joints and skin.
• Mild thinking problems.

What causes Menkes disease?

Menkes disease is a genetic disorder. A baby is born with it. About 2 in 3 people with Menkes disease have inherited a faulty gene passed down by their birth mother. The other 1 in 3 cases result from new mutations (changes) in their ATP7A gene.

The gene that causes Menkes disease, called ATP7A, affects your body’s ability to make a protein that controls amounts of copper in your body. When your ATP7A gene doesn’t work as it should, your body can’t transport copper correctly.

People assigned male at birth (AMAB) are much more likely to inherit the gene than people assigned female at birth (AFAB). Menkes syndrome is an X-linked genetic disorder. That means the gene is associated with the X-chromosome. Since people AMAB only have one X-chromosome, they only need one faulty gene to inherit Menkes disease. People AFAB have two X-chromosomes, so they need to inherit two faulty genes for the disorder to occur.

How do healthcare providers diagnose Menkes disease?

To diagnose Menkes disease, your healthcare provider examines your child. In particular, they look for brittle, crinkly hair. They also ask about symptoms and family history. Your child may have:

• Blood tests: A blood sample can confirm low copper levels and ceruloplasmin (a protein that carries copper). Your healthcare provider also checks for low levels of hormones called catecholamines, which help regulate muscle movement and emotion.
• CT scan or X-ray: Your healthcare provider will look for small, twisted bones (wormian bones) in your child’s skull. These bones result from connective tissue problems caused by a lack of copper.
• Skin biopsy: Your healthcare provider removes a tiny sample of your child’s skin. Examining their skin under a microscope can show how well your child’s body processes copper.
• Ultrasound: This noninvasive test uses sound waves to check their bladder. Bladder outpouches (diverticula) are a common complication of Mendes syndrome.
• Urine test: Your healthcare provider checks for an increase in acids (HVA/VMA) found in urine. These acids vary based on the activity levels of a copper-dependent enzyme.

Can my child have a genetic test for Menkes disease?

Researchers are investigating new ways to identify Menkes disease at an earlier stage. Possible methods include genetic testing for mutations in the ATP7A gene.

How do healthcare providers treat Menkes disease?

Treatment must start within 25 to 28 days of birth to be most effective. The severity of the ATP7A gene mutation affects how well treatment may work.

Healthcare providers may treat children with Menkes disease with under-the-skin (subcutaneous) injections of a copper replacement called copper histidine. This treatment aims to increase the amount of copper in their blood. It can also slow damage to their nervous system, lessen seizures and prolong your child’s life.

How can I manage my child’s symptoms?

Until other treatments for Menkes disease are available, healthcare providers focus on treating the disorder’s symptoms. Your team of healthcare providers may:

• Prescribe medications to control seizures.
• Insert a feeding tube (enteral nutrition) to help your child absorb nutrients better.
• Recommend physical therapy or occupational therapy.
• Prescribe pain medicines.

Can I prevent Menkes disease?

It isn’t possible to prevent Menkes disease. If you have a family member or child with the disorder, talk to your healthcare provider about genetic counseling.

Before you get pregnant, you may choose to undergo genetic testing to see if you have the gene that causes Menkes disease. This information can help you plan a family.

What is the outlook for people with Menkes disease?

Without early treatment, children with Menkes disease usually live for fewer than three years.

Even with treatment, symptoms of Menkes disease often progress over time. Those AMAB with this condition who have undergone treatment may only live for 10 years or fewer.

When should I see my healthcare provider about Menkes disease?

If your child has signs of Menkes disease, see your healthcare provider right away. Early diagnosis can improve the quality of life for children with the disorder.

People inherit Menkes disease through the X-chromosome. People AFAB can take a DNA test to see if they have the gene that causes Menkes disease. You may choose to talk to your healthcare provider about genetic counseling before you have children.

A note from Cleveland Clinic

If your child has Menkes disease, talk to your healthcare provider about the best ways to manage symptoms and improve quality of life. Although there isn’t a cure for Menkes disease, healthcare providers are conducting promising research on new ways to diagnose and treat this condition. Joining a support group for parents who have children with Menkes can also be a beneficial way to share stories and get emotional comfort.