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Menkes disease

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease; Copper transport disease; Trichopoliodystrophy; X-linked copper deficiency

Menkes disease is a genetic disorder in which the body has a problem absorbing and distributing copper to bodily organs. The disease affects mental and physical development.

Causes

Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.

Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X chromosome, so if a mother carries the non-working copy of the 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. This kind of gene inheritance is called X-linked recessive.

In some people, the disease is not inherited from the parents. Instead, the genetic change occurs at the time the baby is conceived.

Symptoms

Common symptoms of Menkes disease in infants are:

  • Brittle, kinky, steely, sparse, or tangled hair
  • Pudgy, rosy cheeks, sagging facial skin
  • Feeding difficulties
  • Irritability
  • Decreased muscle tone (hypotonia), floppiness
  • Low body temperature
  • Intellectual disability and developmental delay
  • Seizures
  • Skeletal changes

Exams and Tests

Once Menkes disease is suspected, tests that may be done include:

  • Ceruloplasmin blood test (substance that transports copper in the blood)
  • Copper blood test
  • Skin cell culture
  • X-ray of the skeleton or x-ray of the skull
  • Gene testing to check for a variation of 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 and depend on whether the ATP7A gene still has some activity.

Support Groups

More information and support for people with Menkes syndrome and their families can be found at:

Outlook (Prognosis)

Most children with this disease die within the first few years of life.

When to Contact a Medical Professional

Talk to your 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 could be seen by a geneticist to find out if they are carriers.

Open References

References

Islam MP, Roach ES. Neurocutaneous syndromes. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, et al, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 99.

Seaborg KA, Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 639.

Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.

  • Hypotonia

    Hypotonia - illustration

    Hypotonia is an abnormal neurological sign in newborn or older infants, and may suggest central nervous system dysfunction, genetic disorders, or muscle disorders. Infants with hypotonia rest with their elbows and knees loosely extended. Infants with normal tone tend to have slightly bent elbows and knees. Head control may be poor or absent in children with hypotonia with the head falling to the side, backward, or forward.

    Hypotonia

    illustration

  • Hypotonia

    Hypotonia - illustration

    Hypotonia is an abnormal neurological sign in newborn or older infants, and may suggest central nervous system dysfunction, genetic disorders, or muscle disorders. Infants with hypotonia rest with their elbows and knees loosely extended. Infants with normal tone tend to have slightly bent elbows and knees. Head control may be poor or absent in children with hypotonia with the head falling to the side, backward, or forward.

    Hypotonia

    illustration

 

Review Date: 4/8/2025

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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