Menkes Disease

A Genetic Disorder Affecting Copper Metabolism

Menke's disease
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Menkes disease is a rare, often fatal neurodegenerative disease that affects the body's ability to absorb copper. Learn about the origins of the disease, plus symptoms, diagnosis and treatment options.

The Origins of Menkes Disease

In 1962, a doctor 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 anywhere from one individual per 100,000 live births to one in 250,000 live births.

Menkes Disease Symptoms

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:

  • Loss of developmental milestones (for example, the baby is no longer able to hold a rattle)
  • Muscles become weak and "floppy," with low muscle tone
  • Seizures
  • Poor growth
  • Scalp hair is short, sparse, coarse, and twisted (resembling wires) and may be white or gray
  • Face has sagging cheeks and pronounced jowls

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.

Diagnosing Menkes Disease

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 doctors look for to make a diagnosis:

  • Low copper and ceruloplasmin levels in 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 blood and cerebrospinal fluid (CSF), even in a newborn
  • Skin biopsy can test copper metabolism
  • Microscopic examination of hair will show Menkes abnormalities

Treatment Options for Menkes Disease

Since Menkes hinders the ability for copper to get to the body's cells and organs, then, logically, getting copper to the cells and organs that need it should help reverse the disorder, right It's not so simple. Researchers have tried giving intramuscular injections of copper, with mixed results. It does seem that the earlier in the course of the disease that the injections are given, the more positive the results. Milder forms of the disease respond well, but the severe form does not show much change. This form of therapy, as well as others, is still being investigated.

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 screening of the individual's family will identify carriers and provide counseling and guidance on recurrence risks.

If your child is diagnosed with Menkes disease, you may want to talk to your doctor about genetic screening for your family. Screening will identify carriers and can help your doctor 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.

Sources:

Kaler, S. G. (2002). Menkes kinky hair disease. eMedicine.

The Menkes Foundation. (n.d.). Research Overview. Retrieved January 20, 2016

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