Table 3 The biochemical range and NBGS result of 48 C-NBS false positive and C-NBS negative newborns with variants related to metabolic disorders

1

G6PDD

G6PD: 30.6–44 U/dL

G6PD < 26 U/dL

Female

26

(G6PD)

G6PD: 2.3–5.8 u/gHb

or G6PD < 2.6 u/gHb

5* [c.185A > G]; [c.406C > T]; 4* [c.1376G > T];

8* [c.1388G > A]; [c.871G > A]; [c.1360C > T]; 2* [c.392G > T]; [c.1004C > A];3* [c.1024C > T];

2

PAHD (PAH)

PHE: 102–162 μmol/L

PHE > 100 μmol/L

[c.1256A > G/c.158G > A]; [c.721C > T/c.158G > A];

16

[c.728G > A/c.158G > A]; [c.331C > T/c.158G > A]; [c.320A > G/c.158G > A]; 2* [c.1197A > T/c.158G > A];

[c.611A > G/c.158G > A]; [c.1199G > A/c.158G > A];

[c.964G > A/c.158G > A]; [c.1068C > A/c.158G > A];

[c.4421G > A/c.158G > A];2* [c.842 + 2 T > A/c.158G > A];

[c.721C > T/c.158G > A]; [c.208_210del/c.158G > A];

3

GA I (GCDH)

C5DC + C6-OH: 0.07–0.18 μmol/L

C5DC + C6-OH > 0.4 μmol/L

2* [c.1244-2A > C/c.1261G > A]

2

4

PCD (SLC22A5)

C0 = 10. 5 μmol/L

C0 < 9.5 μmol/L

c.760C > T/c.1400C > G

1

5

MMA (MMACHC)

C3 = 3.5 μmol/L

C3 > 4 μmol/L

c.609G > A/c.617G > A

1

C3/C2 = 0.18

C3/C2 > 0.25

6

CH (DUOX2)

TSH: 2.5–5.9 μIU/mL

TSH > 9.0 μIU/mL

[c.1588A > T/c.1588A > T]; [c.2104_2106del/c.2104_2106del]

2

Total

48