Table 1 Biochemical and genetic features of 35 neonatal GA1 patients province

1

F

43 d

2.63

4.3

1179.32

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

2

M

27 d

1.5

4.19

976.87

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

3

F

70 d

3.03

2.51

1094.35

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

4

F

50 d

2.86

1.22

759.74

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

5

F

30 d

1.61

3.09

175.7

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

6

F

22 d

2.67

2.47

150.49

c.532G > A

c.108_109delAC

HE

NBS

7

F

20 d

1.45

1.5

503.79

c.533G > A

c.1244-2 A > C

HE

NBS

8

F

18 d

2.81

3.68

300.15

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

9

M

25 d

2.42

 N/A

409.05

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

10

F

20 d

1.9

1.92

462.83

c.395G > A

c.1147 C > T

HE

NBS

11

F

21 d

3.79

 N/A

N/A

c.1244-2 A > C

c.1016T > C

N/A

NBS

12

F

44 d

0.06

0.05

1.31

c.1244-2 A > C

c.1261G > A

LE

NBS

13

M

23 d

1.58

2.19

313.74

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

14

M

28 d

4.26

3.34

741.81

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

15

F

26 d

2.44

3.65

434.34

c.1244-2 A > C

c.1261G > A

HE

NBS

16

F

30 d

0.68

0.7

 N/A

c.300G > A

c.1204 C > T

N/A

NBS

17

F

20 d

1.35

1.69

605

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

18

M

25 d

1.8

2.18

741.81

c.1244-2 A > C

c.1244-2 A > C

HE

NBS

19

F

6 m

0.46

 N/A

232.2

c.339delT

c.406G > T

HE

clinical diagnose

20

M

7y, 5 m

1.65

 N/A

298.06

c.1147 C > T

c.1244-2 A > C

HE

clinical diagnose

21

F

3 y

0.91

 N/A

135.73

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

22

M

5 m

0.25

 N/A

359.2

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

23

F

7 m

0.26

0.36

7.45

c.533G > A

c.755G > A

LE

clinical diagnose

24

M

4y, 5 m

0.42

0.52

16.91

c.406G > T

c.1169G > A

LE

clinical diagnose

25

M

1y, 5 m

0.51

1.26

440.1

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

26

M

1y, 4 m

0.97

 N/A

578

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

27

M

6y, 4 m

0.48

 N/A

13.46

c.1244-2 A > C

c.1286 C > T

LE

clinical diagnose

28

F

6 m

1.15

 N/A

242.1

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

29

M

2y, 3 m

0.27

0.5

360

c.406G > T

c.881G > T

HE

clinical diagnose

30

M

1 y

0.45

 N/A

14.09

c.755G > A

c.1244-2 A > C

LE

clinical diagnose

31

F

1y, 7 m

0.43

 N/A

686.88

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

32

M

1y, 8 m

3.2

 N/A

499.16

c.1244-2 A > C

C.1261G > A

HE

clinical diagnose

33

F

2y, 2 m

4.01

 N/A

985.05

c.1244-2 A > C

c.395G > T, c.1261G > A

HE

clinical diagnose

34

F

3y, 7 m

1.07

1.15

579.6

c.1244-2 A > C

c.1244-2 A > C

HE

clinical diagnose

35

F

3y, 4 m

0.76

 N/A

201.5

c.1063 C > T

c.769 C > T

HE

clinical diagnose