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Table 2 Clinical characteristics of the patients in control group

From: A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Case no.

Sex

Age

NS

Age of beginning to treat

Disease onset

Age at onset

Current health condition

Hydroxocobalamin effective

C1

M

No

5ds

Yes

3ds

Died (7ds)

Unevaluated

C2

M

2 ys

No

7ds

Yes

3ds

Intellectual impairment

No

C3

M

4.1 ys

Yes

1 m

Yes

3ds

Intellectual impairment

No

C4

M

2.9 ys

Yes

1 m

No

Healthy

Yes

C5

M

2 ys

No

20ds

Yes

3ds

Intellectual impairment

No

C6

M

2.8 ys

No

15 ms

Yes

3 ms

Intellectual impairment

Yes

C7

M

No

3ds

Yes

3ds

Died (10ds)

Unevaluated

C8

M

No

2ds

Yes

3ds

Died (7ds)

Unevaluated

C9

F

12 ys

No

20 ms

Yes

20 ms

Intellectual impairment

Yes

C10

F

7 ys

No

12 ms

Yes

12 ms

Intellectual impairment

No

C11

F

No

2.5 ms

Yes

3ds

Died (17 ms)

No

C12

F

4 ys

No

16 ms

Yes

16 ms

Intellectual impairment

No

C13

M

2.6 ys

Yes

2 ms

Yes

17 ms

Intellectual impairment

No

C14

F

2 ys

Yes

20ds

Yes

12 ms

Healthy

No

C15

F

1.5 ys

Yes

7ds

Yes

3ds

Developmental delay

Yes

C16

M

1.5 ys

Yes

1.3 ms

Yes

PDD

Developmental delay

No

C17

M

2 ys

Yes

2 ms

No

Loss of follow up

Unevaluated

C18

M

7.5 ys

No

8 ms

Yes

6 ms

Intellectual impairment

No

C19

M

5.5 ys

No

7ds

Yes

3ds

Intellectual impairment

Yes

C20

F

1 y

Yes

3 ms

Yes

7ds

Developmental delay

No

C21

M

9.5 ys

No

7 ms

Yes

7ds

Intellectual impairment

No

C22

F

1.9 ys

Yes

1 m

No

Healthy

Yes

C23

M

3.3 ys

No

7ds

Yes

3ds

Died (18 ms)

No

C24

F

13 ys

No

46 ms

Yes

46 ms

Healthy

No

C25

M

2.5 ys

Yes

20ds

Yes

6 ms

Intellectual impairment

No

C26

M

No

2 ms

Yes

3ds

Died (5 ms)

No

C27

M

4.8 ys

No

17 ms

Yes

12 ms

Intellectual impairment

No

C28

M

2.5 ys

No

6 ms

Yes

3 ms

Intellectual impairment

Yes

C29

M

6 ys

No

12 ms

Yes

12 ms

Intellectual impairment

Yes

C30

F

4.5 ys

No

6 ms

Yes

5 ms

Intellectual impairment

No

C31

F

2.4 ys

Yes

1 m

Yes

15 ms

Intellectual impairment

No

C32

F

3 ys

Yes

2 ms

No

Healthy

Yes

C33

M

4 ys

No

4 ms

Yes

4 ms

Intellectual impairment

No

C34

M

1.6 ys

Yes

10ds

Yes

7ds

Developmental delay

Yes

C35

F

1.8 ys

Yes

10ds

Yes

7ds

Developmental delay

Yes

C36

M

3 ys

No

16 ms

Yes

8 m

Intellectual impairment

Yes

Caseno

On Presentation

After treatment

Mutation 1

Mutation 2

C3

C3/C2

Methylmalonic acid

Methylcitric acid

C3

C3/C2

Methylmalonic acid

Methylcitric acid

C1

13.33

1.00

301.36

63.64

c.729_730insTT,p.D244Lfs*39

c.729_730insTT,p.D244Lfs*39

C2

28.74

1.54

274.80

14.10

41.67

1.28

1937.12

60.23

c.729_730insTT,p.D244Lfs*39

c.729_730insTT,p.D244Lfs*39

C3

23.42

1.02

253.00

17.00

32.81

0.66

195.40

0.87

c.729_730insTT,p.D244Lfs*39

c.467A > T,p.D156V

C4

6.20

0.32

62.00

1.58

7.30

0.37

34.60

2.00

c.729_730insTT,p.D244Lfs*39

c.446A > G,p.D149G

C5

8.68

0.43

258.90

19.80

34.18

1.23

1062.27

30.91

c.729_730insTT,p.D244Lfs*39

c.1399c > T,p.R467*

C6

7.80

0.26

319.00

41.80

21.90

0.47

130.00

4.50

c.729_730insTT,p.D244Lfs*39

c.1286A > G,p.Y429C

C7

19.46

1.30

106.43

8.73

c.729_730insTT,p.D244Lfs*39

c.1153_1154delTT, p.L385Afs*6

C8

15.01

1.45

2541.20

84.00

c.729_730insTT,p.D244Lfs*39

c.1138G > A,p.G380R

C9

1426.29

15.33

52.19

0.93

<1

0.30

c.1106G > A,p.R369H

c.1106G > A,p.R369H

C10

15.92

1.03

869.83

10.09

12.75

0.74

701.72

8.56

c.1106G > A,p.R369H

c.1530_1531insTT

C11

10.93

2.10

402.98

40.68

18.96

0.96

<1

33.41

c.1106G > A,p.R369H

c.729_730insTT,p.D244Lfs*39

C12

43.71

0.60

7202.00

20.71

0.77

1068.00

5.51

c.1106G > A,p.R369H

c.470T > A,p.V157D

C13

9.46

0.82

448.50

16.20

18.12

0.54

867.31

5.87

c.1106G > A,p.R369H

c.544dupA,p.M182Nfs*29

C14

10.32

0.54

704.12

12.30

47.88

0.89

354.51

3.17

c.1106G > A,p.R369H

c.278G > A,p.R93H

C15

18.00

1.10

523.23

5.52

39.07

1.40

382.44

5.40

c.1106G > A,p.R369H

c.349G > T,p.E117*

C16

21.10

0.79

29.94

0.95

1929.39

47.28

c.2131G > T,p.E711*

c.1106G > A,p.R369H

C17

2.16

0.37

36.97

3.26

c.2131G > T,p.E711*

c.419T > G,p.L140P

C18

4.76

0.36

26.68

0.53

790.1

3.1

c.2131G > T,p.E711*

c.419T > G,p.L140P

C19

11.81

0.43

9.83

0.00

17.68

0.67

103.00

c.424A > G,p.T142A

c.914T > C,p.L305S

C20

7.92

8.81

63.32

1.06

c.424A > G,p.T142A

c.544_545insA,p.M182Nfs*29

C21

13.57

0.47

286.85

24.77

0.85

162.51

c.424A > G,p.T142A

c.419T > C,p.L140P

C22

9.00

1.80

10.90

5.58

24.83

0.44

263.77

<1

c.494A > G,p.D165G

c.1630_1631GG > TA, p.G544X

C23

15.70

0.66

409.00

6.93

14.65

0.62

617.71

22.59

c.494A > G,p.D165G

c.1106G > A,p.R369H

C24

13.19

0.50

18.12

0.99

256.78

1.17

c.613G > A,p.E205K

c.1677-1G > A

C25

10.87

0.66

14.85

8.39

32.18

0.84

450.46

4.04

c.613G > A,p.E205K

c.982C > T,p.L328F

C26

10.33

0.72

422.84

34.03

1.06

495.00

c.626dupC,p.K210X

c.1531C > T,p.R511X

C27

21.77

0.53

453.76

10.21

12.15

0.99

145.40

5.54

c.626dupC,p.K210X

c.1084-33delTTTC

C28

18.53

0.55

130.60

12.70

32.09

0.88

0.64

14.80

c.755_756insA,p.H252Qfs*6

c.912-2A > T

C29

4.70

0.38

278.00

1.70

33.07

1.08

1334.22

9.44

c.914T > C,p.L305S

c.970G > A,p.A324T

C30

4.83

0.51

422.73

2.89

16.86

0.91

1254.17

30.46

c.914T > C,p.L305S

c.1677-1G > A

C31

13.50

1.53

431.92

22.45

32.02

1.41

467.17

8.53

c.914T > C,p.L305S

c.2062G > T,p.E688X

C32

15.45

0.22

180.70

6.08

0.21

116.03

2.96

c.1233_1235delCAT, p.I410-

c.2080C > T,p.R694W

C33

6.66

0.76

165.30

4.00

12.24

0.81

146.72

0.75

c.1280G > A,p.G42D

c.323G > A,p.R108H

C34

13.61

0.85

284.80

21.20

30.22

1.08

744.63

5.94

c.1280G > A,p.G42D

c.1677-1G > A

C35

9.81

1.08

11,057.34

41.93

27.18

1.42

520.08

5.16

c.1679G > A,p.C560Y

c.1850T > G,p.L617R

C36

26.37

0.59

332.80

0.7

26.62

0.43

335.00

1.80

c.2009G > T,c.2009G > T

c.729_730insTT,p.D244Lfs*39

  1. M, male; F, female; NS, Newborn Screening; PDD, progressive developmental delay; y, year; m, month; d, day
  2. Typical reference range of C3: 0.50–4.00 μmol/L; Typical reference range of C3/C2:0.04–0.25; Typical reference range of methylmalonic acid: 0-4 mmol/mol creatinine; Typical reference range of methylcitric acid: 0–0.8 mmol/mol creatinine