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Menkes syndrome

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease

 

In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism."

Causes

 

Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intestines into the bloodstream for use in other areas. As a result, the brain and other parts of the body do not get enough copper.

Copper can build up in the small intestine and kidneys, but low copper levels in other areas can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.

Menkes syndrome is inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease.

 

Symptoms

 

Symptoms of Menkes syndrome are:

  • Bone spurs
  • Brittle, kinky hair
  • Feeding difficulties
  • Irritability
  • Lack of muscle tone, floppiness
  • Low body temperature
  • Mental deterioration
  • Pudgy, rosy cheeks
  • Seizures
  • Skeletal changes

 

Exams and Tests

 

There is often a history of Menkes syndrome in a male relative.

Signs include:

  • Abnormal appearance of the hair under a microscope
  • Abnormally low body temperature
  • Bleeding in the brain
  • Slow growth in the womb

In males, all of the hairs will be abnormal. In females who carry this trait, half of them may have areas of abnormal hair.

Tests may include:

  • Serum ceruloplasmin (substance that transports copper in the blood)
  • Serum copper level
  • Skin cell culture
  • X-ray of the skeleton or x-ray of the skull

Genetic testing may show a change (mutation) in the ATP7A gene.

 

Treatment

 

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.

 

Outlook (Prognosis)

 

Most people with this condition die within the first few years of life.

 

Possible Complications

 

  • Seizures
  • Death

 

When to Contact a Medical Professional

 

Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.

 

Prevention

 

See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.

 

 

References

Bierings M, Clayton P, Houwen RHJ. Disorders in the transport of copper, iron, magnesium, manganese, selenium, and zinc. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 38.

Kaler SG, Packman S. Inherited disorders of human copper metabolism. In: Rimoin D, Korf B, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 6th ed. Elsevier Ltd: 2013;chap 100.

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          Review Date: 4/20/2015

          Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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