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Table 1 Clinical biochemical findings at presentation in 69 patients with OTCD

From: Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Patient No

Sex

Onset age

Current/death age

Type

CITa

(μmol/L)

GLNa

(μmol/L)

Orotic acida

(mmol/molCr)

Uracila

(mmol/molCr)

Peak AMONa

(μmol/L)

ALTa

(U/L)

1b

M

7d

8m

EO, NBS

1.71

3.25

425.42

8.60

300

32

2

M

3d

7d

EO

ND

ND

ND

ND

346

18

3

M

20d

24d

EO

ND

ND

ND

ND

ND

ND

4

M

3d

7d

EO

3.09

33.54

231.20

151.20

637

ND

5

M

9d

44d

EO

4.05

ND

ND

ND

815

ND

6

M

3d

7d

EO

2.48

80.60

267.60

53.26

700

18

7 b

M

5d

3.1y

EO

3.24

15.15

22.28

8.70

50

172

8

M

1d

5d

EO

2.18

24.79

127.33

90.78

 > 500

15

9 b

M

3d

7d

EO,NBS

4.80

43.73

1638.32

61.91

780

ND

10

M

3d

7d

EO

4.96

ND

214.77

9.89

1015

ND

11

M

2d

6d

EO

3.25

45.78

423.71

256.54

 > 500

ND

12

M

2d

2d

EO

3.40

ND

ND

ND

657

648

13

M

1d

7d

EO

ND

ND

ND

ND

1340

ND

14

M

56y

56y

LO

8.83

5.84

827.28

28.69

1152

23

15 b

M

1.8y

2.3y

LO,NBS

3.07

27.20

ND

17.93

180

42

16

M

8m

2.5y

LO

ND

ND

ND

ND

300

ND

17

M

2y

*

LO

5.74

10.83

65.68

29.17

218

ND

18 b

M

4m

9.7y

LO

6.83

44.39

228.79

311.67

350

28

19

M

36y

39y

LO

3.87

17.93

ND

ND

427

36

20

M

4.3y

4.3y

LO

21.74

16.37

312.35

248.40

114

244

21 b

M

1.4y

4.7y

LO

5.62

9.92

413.21

143.06

351

55

22 b

M

2.6y

4.4y

LO

ND

ND

ND

ND

244

ND

23 b

M

1.4y

2.4y

LO

25.43

5.61

137.00

6.07

114

40

24

M

9.7y

9.9y

LO

8.58

11.23

96.00

42.90

120

69

25

M

10m

1.4y

LO

2.28

ND

ND

ND

131

327

26

M

3y

10.8y

LO

7.48

22.23

48.31

165.31

289

119

27

M

7m

2.2y

LO

1.10

14.28

543.54

130.02

392

462

28

M

1y

8.7y

LO

7.09

14.21

1.85

19.79

45

26

29

M

1.2y

8.1y

LO

3.86

15.48

455.63

133.00

187

48

30

M

8m

1.8y

LO

13.60

ND

82.82

339.11

335

1782

31

M

2.1y

3y

LO

12.77

13.53

11.60

17.53

257

116

32

M

5y

5y

LO

2.80

ND

172.80

27.80

2500

19.7

33 b

M

3.4y

4y

LO

18.62

14.04

77.30

62.90

447

228.9

34

M

3 m

4.5y

LO

2.43

12.81

1.79

5.72

265

105

35 b

F

1d

1m

EO,NBS

2.88

21.31

282.12

34.56

2000

ND

36

F

27d

8.8y

EO

14.83

29.73

197.00

51.80

410

2602

37

F

6y

9.6y

LO

19.24

14.22

198.45

205.32

194

509

38

F

2.5y

4.5y

LO

15.75

13.50

202.00

67.50

190

665

39

F

5.6y

5.6y

LO

12.60

11.65

189.20

50.04

500

759

40

F

2y

*

LO

14.07

18.96

141.39

35.73

ND

ND

41

F

1.5y

2y

LO

8.81

9.87

48.92

71.86

103

508

42

F

2.3y

5.1y

LO

9.70

12.78

43.50

251.00

1300

1330

43 b

F

No

4m

AS,PT

6.61,

ND

224.31

ND

59

28

44

F

2.3y

3.8y

LO

11.84

4.93

43.83

131.88

120

215

45

F

2y

2.8y

LO

7.68

32.68

ND

ND

256

ND

46

F

2.4y

3.9y

LO

13.44

61.66

673.28

161.53

385

380

47

F

6m

3.8y

LO

12.68

20.81

1435.31

153.89

387

214

48

F

29y

29y

LO

8.41

18.16

38.75

51.55

421

ND

49

F

1.5y

8.4y

LO

15.90

23.87

457.51

112.32

133

ND

50 b

F

2.3y

2.8y

LO

15.66

37.02

251.06

42.70

300

ND

51

F

3y

13.2y

LO

10.91

31.70

356.42

65.03

286

422

52 b

F

1.5y

3.3y

LO

1.77

ND

ND

ND

350

1455.00

53

F

1.1y

3.2y

LO

4.27

ND

469.38

261.67

260

72

54

F

1.8y

9.3y

LO

5.94

15.18

204.05

83.30

216

415

55 b

F

10m

2.6y

LO

ND

ND

ND

ND

315

885

56

F

3.5y

5.1y

LO

9.53

17.52

38.21

6.75

234

687

57

F

1.3y

7y

LO

8.21

26.24

227.12

441.98

189

139

58

F

1y

2.8y

LO

4.21

21.26

4.53

ND

480

97

59

F

6y

6.7y

LO

10.40

42.54

199.30

ND

170

338.2

60

F

2y

8.4y

LO

15.56

17.72

305.73

48.85

278

964

61

F

4y

9.9y

LO

5.69

23.48

19.93

338.64

> 500

839

62

F

1.1y

2.6y

LO

3.17

14.11

77.65

29.97

300

303

63

F

1.4y

7.3y

LO

8.82

49.73

691.94

559.21

197

1639

64

F

1y

7.3y

LO

3.70

5.18

55.46

156.57

383

49

65

F

9.3y

*

LO

7.44

56.51

106.88

61.87

268

ND

66 b

F

1.7y

3.3y

LO

11.54

20.67

129.10

107.17

> 500

623

67

F

5.5y

5.7y

LO

7.57

19.38

308.70

78.95

231

311

68

F

2y

*

LO

6.94

29.11

213.13

164.51

256

388

69

F

1.5y

5.7y

LO

12.37

24.27

2.72

71.62

320

111

  1. M, male; F, female; d, days; m, months; y, years; EO, early-onset; LO, late-onset; AS, asymptomatic; NBS, identified by newborn screening; PT, identified by prenatal testing; CIT, blood citrulline; GLN, blood glutamine; AMON, blood ammonia; ND, not detected
  2. “*” donates loss to follow-up
  3. aNormal reference values: CIT 7–35 umol/L; GLN 6–30 umol/L; Urine orotic acid 0–1.5 mmol/molCr; Uracil: 0–7 mmol/molCr; AMON 9–30 μmol/L; ALT 9-52U/L; severe elevation of ALT was defined as > 175 U/L in females, > 200 U/L in males
  4. bThe patients who underwent expanded newborn screening by tandem mass spectrometry