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