Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain.
Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3 to 5 years.
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Menkes syndrome include:
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth and may include:
Babies with Menkes syndrome often exhibit the following physical characteristics:
The following tests may be done to diagnose Menkes syndrome:
RESOURCES:
MenkesSyndrome.com
http://www.menkessyndrome.com
National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov
Office of Rare Diseases
http://rarediseases.info.nih.gov
CANADIAN RESOURCES:
About Kids Health
http://www.aboutkidshealth.ca
Canadian Organization for Rare Disorders
http://www.cord.ca/
References:
Harrison’s Principles of Internal Medicine . 14th ed. McGraw-Hill; 1998
Textbook of Child Neurology . 4th ed. Lea & Febiger; 1990.
Last reviewed November 2008 by Rosalyn Carson-DeWitt, MD
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