Table 1 Newborns with a positive second-tier screening for citrin deficiency
No. | First DBS citrulline (μM) | Mutation analysis | Diagnosis |
|---|---|---|---|
1 | 17.31 | c.851_854del /IVS6+5 G>A | NICCD |
2 | 15.5 | c.851_854del /IVS6+5 G>A | NICCD |
3 | 18.89 | c.851_854del He | Negative |
4 | 18.36 | c.851_854del He | Negative |
5 | 17.16 | c.851_854del He | Negative |
6 | 15.06 | c.851_854del He | Negative |
7 | 13.76 | c.1638_1660dup23 He | Negative |
8 | 5.03 | c.851_854del He | Negative |
9 | 5.01 | c.851_854del He | Negative |