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Menkes Syndrome(Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; Copper Transport Disease)
by
Michelle Badash, MS DefinitionMenkes 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. CausesCopper 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 FactorsMenkes syndrome is more common in males, and in those with a family history. SymptomsChildren with Menkes are often born prematurely. Symptoms usually begin within 2-3 months after birth and may include:
Babies with Menkes syndrome often exhibit the following physical characteristics:
DiagnosisThe following tests may be done to diagnose Menkes syndrome:
Other testing may include:
TreatmentThere 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. PreventionThere 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 2018 by
EBSCO Medical Review Board
Michael Woods, MD, FAAP Last Updated: 8/24/2017 | |