Carnitine Uptake Defect?

mle5d

Hello. I'm not sure if this is the right place to post this question, but I figured I'd start here. My son was born nine days ago, and his pedi just got the results of his newborn screening test. He came out borderline for Carnitine Uptake Defect. I realize this could be a false positive, but I'm trying to learn more in case it is not (FTM, andrew than a little paranoid). 

Is anyone familiar with this deficiency, or have any advice or suggestions? We are doing his 2nd screen on Friday, and will see after that I'd it is a false positive or I'd we need to worry.

TIA! 

gimmietimmies

Yes, I'm familiar with this. I know you're info gathering, but I'd hang on until you have a confirmed diagnosis. Maybe read the Wiki article, but please don't play on google, wait for the doctors to give a prognosis. All the links I've come up over the past year and a half have scared the daylights out of me, and we're living it. DS was born before they screened for this (in fact, I don't think it's part of the newborn screen here yet), and has floated around diagnosis' since he was a baby. We're waiting for confirmation from the genetic testing and muscle biopsy to confirm he has a carnitine disorder. All his symptoms and labs fit.

If they come back with the dx, let me know/page me. We've seen what happens with it, and I'll be ecstatic to have this treated properly. Treated properly, your lo will have a mostly normal childhood.

saraboston

DD failed her newborn screen for the same thing. Her second screen was negative (hope yours will be too!), but we were referred to Children's to see a geneticist anyway. They took a detailed family history and blood from me and DD. As it turns out, she is perfectly fine, but I have primary carnitine deficiency. The only reason she failed initially was because of me. Remember, a screening is just a screening... it's not a diagnosis!

jcooper924

Hi there, 

My son was recently diagnosed as well, and I just started a Facebook group for it - please visit our page and join!  https://www.facebook.com/groups/683318591681968/

mightmom13

gimmietimmies said:

 

If they come back with the dx, let me know/page me. We've seen what happens with it, and I'll be ecstatic to have this treated properly. Treated properly, your lo will have a mostly normal childhood.

My mitochondrial condition presents (pre-testing days) with a carnatine deficiency disorder - once it was managed and now, childhood was fairly normal for me though it was the 80s so it took awhile and now I am pretty darn healthy. DD is being investigated by genetics for this now too because of the chances of a Mito carrier and affected mom and current symptoms. So if you need to come back to us, please do!

pedrogs

Hello mle5d,

My child also screened positive, we are waiting for the confirmation test and hoping it's a false positive? Would you care to share what happened to you? I'd really help? Thank you!

acard3391

Did any of you get false positives for cud