I have trouble characterizing a genetic difference that allows one to do something additional as a "defect". That's kind of like calling the opposible thumb a "defect".
Whatever your position on eating meat or drinking milk, I can do something that a most people in the world can't -- digest lactose. How is it that I'm the defective one?
To be a wonk about it:
The question is whether lactose digestion arises from the creation of a new ability (what we call a "gain-of-function mutation") or the disabling of a previous ability (what's called a "loss-of-function mutation"). I don't actually know what's going on there, but you could posit a system in which what the mutation actually does is to disable the pathway that inhibits lactose digestion after infancy; in that case, you would probably call it a loss-of-function mutation, since you're "losing" the lactose-digestion-inhibition "function." However, given that lactose digestion is not apparently maladaptive or disruptive to reproduction, calling it a "defect" is at best misguided.
(I hasten to add that, in scientific terms, causing any mutation a "defect" is generally considered fallacious; more and more "disease" mutations are turning out to have advantageous functions when heterozygous, for example, or otherwise be around for a reason other than making our lives hell. Really heinous, embryonically-fatal-in-heterozygosity stuff, or stuff directly related to DNA damage, can still get called a "defect" with some justice, but most mutations can't be. Also, as a scientist*, I have to just say that technically
all mutations are morally neutral. Until we track down that elusive "evil gene," at least.)
* "I'm a SCIENTIST -- I don't believe in anything!!"