Felt I had to write this post as this deficiency is now coming to light with the expanded screening they do now on newborns.
Intially when I had my daughter in October, her test came back positive and well you can imagine my worry. Blood and Urine tests were done to measure her levels which were elevated and I was in a right state thinking the worst. I was also tested as this is the procedure that they do now to determine if parents are carriers etc.
Well it turns out that it is actually ME that has 3mcc! They believe her levels are elevated because of metabolites from me and the fact that I am breastfeeding her.
I have since seen genetics counsellors and doctors and they have prescribed me levocarnitine supplements(as my levels are quite low) but they want me to take 18 pills of this stuff a day! Now if I have to take it, I don't care, to get my levels up but my concern is my daughter who I am still breastfeeding. There is not many studies done on the effects of l carnitine. They do know it passes through breastmilk but the effects of which it could have are unknown.
I discussed this and they assured me I did not have to give up breastfeeding her but doing more research and such there just does not seem to be many answers out there with regards to the effects(especially high dose effects) of this stuff.
The normal dose for this is 990mg, 3 times per day I believe and they want me to take the double amount...
I am going to talk to them again, because the more I think about it, the more it bothers me. I do not want to take the double then find my DD has some adverse effect because of breastmilk.. Its so frustrating
Anyway, longwinded but would love to know if any new moms have also been diagnosed.