A member asked:

Can menkes disease or syndrome show later in life? can it unnoticed until adulthood? is this possible? are you always born with it?

A doctor has provided 1 answer

Yes, Yes and Yes: Depending on the nature and degree of aberrant functioning of the gene ATP7A, responsible for copper transport and absorption, one can have classic Menkes disease in childhood, a variant now called Occipital Horn Disease in young adulthood or distal motor neuropathy in mid life. Most of the time the clinical picture does not vary within a family but sometimes it can. For a more detailed discussion of this very compl;ex matter, please schedule a virtual consult. Do consider chromosomal microarray testing and genetic counseling. This gene is X linked so the disease cannot be passed from the father but the gene can be passed to a daughter who will then pass it to her child 50% of the time..

Answered 5/16/2015

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