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Menkes Syndrome

(Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; Copper Transport Disease)

Definition

Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in changes in the arteries and deterioration of the brain.

Menkes syndrome is rare. Most children born with Menkes syndrome have a life expectancy of < 4 years.

Causes    TOP

Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that prevents the absorption of copper from the intestines. It causes copper deficiency in the liver and brain, but excess amounts in the kidney. This causes changes in the hair, brain, bones, liver, and arteries.

Risk Factors    TOP

Menkes syndrome is more common in males, and in those with a family history.

Symptoms    TOP

Children with Menkes are often born prematurely. Symptoms usually begin within 2-3 months after birth and may include:

  • Seizures
  • Difficulty feeding
  • Developmental delays and regression
  • Floppy muscle tone
  • Slow growth

Osteoporosis—Weakened Bone Matrix

Osteoporosis
Copyright © Nucleus Medical Media, Inc.

Babies with Menkes syndrome often exhibit the following physical characteristics:

  • Hair that is stubby, tangled, sparse, lacking in color, and easily broken
  • Chubby, rosy cheeks
  • Flattened bridge of the nose
  • Face lacking in expression
  • Pale skin
  • Small head
  • Weak and/or brittle bones

Diagnosis    TOP

The following tests may be done to diagnose Menkes syndrome:

  • Blood tests and biopsies to measure copper and ceruoplasmin levels
  • Many children can be diagnosed by genetic test of the ATP7A gene

Other testing may include:

  • X-ray of the skull and skeleton to look for abnormalities in bone formation
  • Microscopic examination of hair
  • Ultrasound to look for bladder diverticula or "out pouching"

Treatment    TOP

There is no cure for Menkes syndrome. Early treatment with IV copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.

Prevention    TOP

There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.

RESOURCES:

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov
Office of Rare Diseases Research
https://rarediseases.info.nih.gov

CANADIAN RESOURCES:

About Kids Health—The Hospital for Sick Children
http://www.aboutkidshealth.ca
Canadian Organization for Rare Disorders
http://raredisorders.ca

References:

Copper deficiency. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T113792/Copper-deficiency. Updated June 15, 2017. Accessed August 24, 2017.
ATP7A-Related Copper Transport Disorders. GeneReviews website. Available at:
...(Click grey area to select URL)
Updated August 18, 2016. Accessed August 24, 2017.
Menkes Disease. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/menkes-disease/. Published 2008. Accessed August 24, 2017.
Menkes Disease. The Menkes Foundation website. Available at:
...(Click grey area to select URL)
Accessed August 24, 2017.
Menkes Disease. Online Mendelian Inheritance in Man website. Available at: https://www.omim.org/entry/309400. Updated August 9, 2016. Accessed August 24, 2017.
Last reviewed September 2017 by EBSCO Medical Review BoardMichael Woods, MD, FAAP
Last Updated: 8/24/2017

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