The most common symptoms of Menkes disease include:
After a period of typical development in the two to three months following birth, infants with Menkes disease begin to lose developmental skills.
Other symptoms may include:
The severity of symptoms depends on the type of genetic mutation a person has. People who have mutations that completely stop copper transport and storage usually have more severe symptoms.
Without treatment, usually in the form of copper injections, Menkes disease can cause death by the time a child is 3 years old.
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