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A member asked:
Can a child still have menkes disease if genetic test was negative but had low copper and ceralplasmin?
A doctor has provided 1 answer
Your query piqued my: interest, so I researched it. Yes, there are different molecular genetic methods to diagnose Menke's Syndrome. Ask your child's doctors to contact the MD who has confirmed a genetic defect in the ATP7A gene on Xq21.1 in 94% of cases he's seen: Stephen G Kaler, MD, MPH Head, Unit on Human Copper Metabolism National Institutes of Health Rockville, Maryland kalers@mail.nih.gov
Answered 12/6/2015
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