Overview of Menkes Disease

Menkes disease is a rare, often fatal neurodegenerative disease that affects the body's ability to absorb copper. Features of Menkes disease include wiry hair, underdeveloped muscles, and seizures.

Learn about the origins of this genetic disorder, its symptoms, diagnosis, and treatment options.

Origins of Menkes Disease

In 1962, a healthcare provider named John Menkes and his colleagues at Columbia University in New York published a scientific article about five male infants with a distinctive genetic syndrome. This syndrome, now known as Menkes disease, Menkes kinky hair disease, or Menkes syndrome, has been identified as a disorder of copper metabolism in the body.

Since people with this disease cannot properly absorb copper, the brain, liver and blood plasma are deprived of this essential nutrient. Likewise, other parts of the body, including the kidneys, spleen, and skeletal muscle accumulate too much copper.

Who Gets Menkes Disease?

Menkes disease occurs in people of all ethnic backgrounds. The gene involved is on the X (female) chromosome, which means that males are usually the ones affected by the disorder.

Females who carry the gene defect generally do not have symptoms unless certain other unusual genetic circumstances are present. Menkes disease is estimated to occur in one individual per 100,000 live births.

Symptoms and Features of Menkes Disease

There are many variations of Menkes disease, and symptoms may range from mild to severe. The severe or classic form has distinctive symptoms, usually beginning when someone is about two or three months old. Symptoms include:

• Coarse twisted hair that may be short or thin and light in color, even white, silver, or grey
• Lack of weight gain
• Lack of normal growth (failure to thrive)
• Seizures
• Lack of muscle development
• Poor head control
• Reduced muscle tone (hypotonia)
• Sagging cheeks
• Abnormal development of the sternum and rib cage (pectus excavatum)
• Low body temperature (hypothermia) in the newborn period
• Intellectual disability in older children

Individuals with a variation of Menkes disease, such as X-linked cutis laxa, may not have all of the symptoms or may have them to differing degrees.

The life expectancy of someone with Menkes disease is rather short. Most children do not live past the age of 3 years. Getting Menkes disease diagnosed and treated as early as possible can make a big difference in improving the child's chances of survival and symptoms.

How Menkes Disease Is Diagnosed

Babies born with classic Menkes disease appear normal at birth, including their hair. Parents often begin to suspect something is wrong when their child is around two or three months old when changes typically begin to occur.

In the milder forms, symptoms may not appear until the child is older. Females who carry the defective gene may have twisted hair, but not always. Here is what healthcare providers look for to make a diagnosis:

• Low copper and ceruloplasmin levels in the blood, after the child is six weeks old (not diagnostic before then)
• High copper levels in the placenta (can be tested in newborns)
• Abnormal catechol levels in the blood and cerebrospinal fluid (CSF), even in a newborn
• Copper metabolism test results from skin biopsy
• Menkes abnormalities on microscopic examination of hair

Treatment Options for Menkes Disease

Treatment for Menkes disease includes copper supplements delivered by subcutaneous injection. However, both the type of copper complex used and the severity of the genetic mutation can influence how well this treatment works.

Children with milder forms of the disease respond well to copper histidinate treatment. They may see improved growth, overall survival, and neurological development, as well as reduced episodes of epilepsy.

Treatment is also focused on relieving the symptoms. In addition to medical specialists, physical and occupational therapy can help maximize potential. A nutritionist or dietitian will recommend a high-calorie diet, often with supplements added to baby formula.

Genetic Testing

If your child is diagnosed with Menkes disease or someone in your family has Menkes disease, talk to your healthcare provider about genetic screening for your family.

Screening will identify carriers and can help your healthcare provider provide counseling and guidance on recurrence risks, which is about one in every four pregnancies. Becoming familiar with The Menkes Foundation, a non-profit organization for families impacted by Menkes Disease, can help you find support.

Summary

Menkes disease is a rare genetic disorder affecting an individual's ability to metabolize copper. Features of Menkes disease usually start appearing around the age of two or three months and include abnormal development, hair changes, and sagging cheeks.

Males are more likely to have Menkes disease than females due to the genetic inheritance pattern. Early diagnosis and treatment can prolong life and reduce symptoms. Talk to your healthcare provider about genetic testing if you are concerned about Menkes disease.