The most common treatment for Menkes disease is copper injection therapy. Research shows that boys with Menkes disease respond in various ways to early copper treatments. Some patients show great improvement, while others have minimal improvement or die despite the early intervention.
Infants who are diagnosed and begin treatment within days after birth show the best outcomes. But because current newborn screening methods do not detect Menkes, and because the clinical symptoms are hard to spot in newborns, most infants do not get diagnosed or treated early enough to benefit significantly from treatment.
When researchers studied the ATP7A gene, they found that those who responded best to early treatment had certain types of mutations in the gene that did not completely stop copper transport.1
Physical and occupational therapy can help maximize the potential and functioning of a child with Menkes disease. Physical therapy includes activities and exercises that build motor skills and improve strength, posture, and balance. Occupational therapy helps people conduct their everyday tasks and make the most of their skills, abilities, and interests.
Other health care providers can offer treatments that may reduce some symptoms of the disease. For example:
- Nutritionists or registered dietitians can recommend the appropriate diet for a child with Menkes disease to prevent or reverse failure to thrive.
- Gastroenterologists can assist with treatments for mechanical problems with feeding and digestion, such as inserting a feeding tube or removing blockages in the intestines that result from copper buildup.
- Urologists can assist with medications or surgery to remove blockages in the bladder that result from high copper buildup.2
- 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 http://www.ncbi.nlm.nih.gov/books/NBK1413
- 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), 605–614.