Table 2

Newborns with a positive second-tier screening for CUD
No. First DBS free carnitine (μM) p.R254X screening Diagnosis
Positive 1st screening
1 5.94 + Lost to follow-up
2 5.23 - Prematurity
3 3.27 - Prematurity
4 4.51 - Prematurity
Inconclusive 1st screening
1 7.90 + Normal
2 10.20 + Normal
3 11.70 + Normal
4 11.36 + Normal
5 11.91 + Normal
6 7.65 + Normal
7 10.26 + Normal
8 7.36 + Normal
9 8.50 + Normal
10 10.32 + Normal
11 6.84 + CUD (p.R254X/p.F17L)

Wang et al.

Wang et al. BMC Medical Genetics 2013 14:24   doi:10.1186/1471-2350-14-24

Open Data