DS is 6 days old and last night we received a call from our pediatrician that his newborn screening came back with higher than normal level of C5DC which can be an indicator of GA1, a genetic metabolic chromosomal disorder. His level was .6 and California requires further testing for levels over .5 so now we have to do further testing. Our pediatrician said he wouldn't worry and that the test is just a precaution but the concern is still there. Some states don't even do follow up testing if levels are under .7 or .8 and while I know the chances are slim I am still freaking out. It is so rare that there isn't a lot on the internet so getting information is impossible. Has anyone else had this come back on their screening? Any info is greatly appreciated!
Re: Glutaric Acidemia Type 1 (GA-1) Any Info? Please Help!
I googled it. This was the very first link. Seems like you didn't try too hard to find info.
I am sorry levels are high(ish) and fx that it means nothing.