Table 1 ACADM genotypes in 68 patients, identified upon population NBS for MCAD deficiency in The Netherlands

CLASSICAL

42

c.985A > G

11

p.K329E

c.985A > G

11

p.K329E

0

0

[25–27]

5

c.985A > G

11

p.K329E

c.233 T > C

4

p.I78T

2

2

[23]

2

c.985A > G

11

p.K329E

c.789A > G

9

p.L263F

0

n.d.

[2]

1

c.985A > G

11

p.K329E

c.799 G > A

9

p.G267R

8

n.d.

[28, 29]

2

c.233 T > C

4

p.I78T

c.233 T > C

4

p.I78T

<1

3

[23]

1

c.233 T > C

4

p.I78T

c.789A > G

9

p.L263F

0

n.d.

[2, 23]

VARIANT

2

c.985A > G

11

p.K329E

c.158 G > A

3

p.R53H

n.d.

23

This study

3

c.985A > G

11

p.K329E

c.199 T > C

3

p.Y67H

58

31

[30]

1

c.985A > G

11

p.K329E

c.216 + 1 G > T

4

Splice site variant

n.d.

0

This study

2

c.985A > G

11

p.K329E

c.238A > G

4

p.R80G

n.d.

36

This study

1

c.985A > G

11

p.K329E

c.470 C > T

7

p.A157V

n.d.

0

This study

1

c.985A > G

11

p.K329E

c.493 G > A

7

p.A165T

n.d.

20

This study

1

c.985A > G

11

p.K329E

c.600-18 G > A

8

p.XXX?

n.d.

63

[10]

1

c.985A > G

11

p.K329E

c.928 G > A

10

p.G285R

0

n.d.

[23]

1

c.233 T > C

4

p.I78T

c.1066A > T

11

p.I356F

n.d.

0

This study

1

c.250 C > T

4

p.L84F

c.199 T > C

3

p.Y67H

n.d.

58

[30, 31]

1

c.799 G > A

9

p.G267R

c.865 G > A

10

p.V289I

n.d.

25

This study