Menkes Syndrome
En Español (Spanish Version)

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. 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.

Causes
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 and causes it 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.

Risk Factors
Factors that increase your chance of getting Menkes syndrome include:

  • Sex: male
  • Family members with Menkes syndrome
Symptoms
Children with Menkes are often born prematurely. Symptoms usually begin within three months after birth and may include:

  • Seizures
  • Difficulty feeding
  • Developmental delays
  • Floppy muscle tone
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 cheeks
  • Flattened bridge of the nose
  • Face lacking in expression
Diagnosis
The following tests may be done to diagnose Menkes syndrome:

  • X-ray of the skull and skeleton to look for abnormalities in bone formation
  • Blood tests to measure copper levels
Treatment
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
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

Office of Rare Diseases Research

CANADIAN RESOURCES:

Canadian Organization for Rare Disorders

References:
Menkes disease. NIH Office of Rate Diseases Research website. Available at: http://rarediseases.info.nih.gov/gard/1521/menkes-disease/resources/1 . Accessed July 25, 2013.

Menkes syndrome. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/menkes-syndrome . Updated March 2009. Accessed July 25, 2013.

Last Reviewed July 2013



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