How do health care providers diagnose Menkes disease?

Screening Newborns

NICHD researchers have developed a blood test that reliably detects Menkes disease in newborns at risk due to a history of Menkes in their families. The test measures four different chemicals in the blood and, depending on their levels, can accurately diagnose the presence of Menkes disease before symptoms appear.

The test greatly extends the survival rate for children with Menkes disease by allowing for early diagnosis and treatment of the condition when chances for successful treatment are greatest. Researchers are now working to develop a test that can routinely screen newborn males for Menkes disease.1,2,3

Diagnosing Older Infants

If newborn screening is not performed, Menkes will probably go undiagnosed until symptoms begin to develop, usually when the infant is 2 or 3 months old.

To diagnose Menkes disease, a health care provider will order blood tests to measure the levels of copper and a copper-containing protein called ceruloplasmin (pronounced suh-roo-luh-PLAZ-min) in the blood. If levels are low, then the health care provider will likely order additional tests to confirm Menkes disease. Additional tests may include:

  • Genetic testing to detect the mutated ATP7A gene
  • Microscopic examination of the hair to look for twisting and splitting characteristic of Menkes
  • X-rays to look for thinning and weakening of the bones and the presence of extra bone pieces in the skull (called Wormian bones)
  • Magnetic resonance imaging (MRI) of the brain to measure the size of the brain and to detect any problems with blood vessels
  • An electroencephalogram (pronounced ih-lek-troh-en-SEF-uh-luh-gram) or EEG to measure the brain's pattern of electrical activity, which may be abnormal in someone with Menkes disease4

Once a child is diagnosed with Menkes disease, a health care provider may collect additional information to determine the extent of the disease by:

  • Performing a developmental assessment
  • Evaluating the child's feeding and nutrition
  • Assessing the child's bladder function5

Testing During Pregnancy

It is possible to test for Menkes disease before birth. However, because of the small risk for miscarriage that the tests pose, they are generally performed only if there is a family history of the disease.

A doctor may take a sample of amniotic (pronounced am-nee-OT-ik) fluid, a process called amniocentesis (pronounced am-nee-oh-sen-TEE-sis). Or, a doctor may take a sample of cells from the placenta, a process called chorionic villus (pronounced KOHR-ee-on-ik VILL-uhs) sampling. The fluid or cells are sent to a lab, where they undergo testing to look for the mutated ATP7A gene.5

If you have a history of Menkes disease in your family and you want to have children, talk with your health care provider about Menkes disease and prenatal testing. You might also want to visit a genetic counselor before pursuing pregnancy so that you understand all the risks and possibilities associated with the disease.

  1. National Institute of Neurological Disorders and Stroke. (2011). Menkes disease information page. Retrieved May 21, 2012, from
  2. NIH News. (2008, February 6). NIH scientists detect fatal copper disorder at birth [Press release]. Retrieved May 21, 2012, from
  3. Kaler, S. G., Holmes, C. S., Goldstein, D. S., Tang, J., Godwin, S. C., Donsante, A., et al. (2008). Neonatal diagnosis and treatment of Menkes disease. New England Journal of Medicine, 358(6), 605–14. Abstract retrieved May 21, 2012, from
  4. Madisons Foundation. (2003, updated 2004). Menkes disease (syndrome). Retrieved May 23, 2012.
  5. Kaler, S. G. (2003, updated 2010). ATP7A-related copper transport disorders. In Pagon, R. A., Bird, T. D., Dolan, C. R., et al. (Eds.), GeneReviews. Retrieved May 21, 2012, from

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