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.
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.
Menkes syndrome is more common in males, and in those with a family history.
Children with Menkes are often born prematurely. Symptoms usually begin within 2-3 months after birth and may include:
- Difficulty feeding
- Developmental delays and regression
- Floppy muscle tone
- Slow growth
Osteoporosis—Weakened Bone Matrix
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Babies with Menkes syndrome often exhibit the following physical characteristics:
- Hair that is stubby, tangled, sparse, lacking in color, and easily broken
- Chubby, rosy
- Flattened bridge of the nose
- Face lacking in expression
- Pale skin
- Small head
- Weak and/or brittle bones
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:
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"
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.
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.
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: http://www.ncbi.nlm.nih.gov/books/NBK1413. 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: http://themenkesfoundation.org/research/overview.html. 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 2018 by
EBSCO Medical Review Board
Michael Woods, MD, FAAP
Last Updated: 8/24/2017