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Table 1 Initial clinical presentation and metabolic derangement of neonatal UCD patients

From: High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

 

Initial blood gases

Symptoms#

NH4+

No

Sex

Deficiency of

pH

Base excess

Lactate

CO2

SBP

DBP

MAD

Onset

At obstetric unit

On admission at NICU

First test result

On admission at NICU

Peak NH4+

Time until NH4+ < 150 μmol/l

  

mmol/l

mmHg

Day of life

 

(μmol/l)

hours

F

CPS1

7.42

−2.3

6.0

76.7

86

52

69

3

7

1, 3, 6

4000

4420

4420

35

2

M

CPS1

7.36

−9.1

5.7

26.1

74

50

58

3

n.d.

1, 4

673

835

1100

21

M

OTC

7.52

2.9

2.6

29.6

84

53

63

9

4, 8

1, 4, 8

385

136

385

9

M

OTC

7.47

−1.5

4.0

30.0

109

61

72

5

2, 4

2, 4

240

676

676

28

5

M

OTC

7.46

−2.4

5.2

26.0

71

56

81

2

4

1, 4

286

3363

4050

28

6

M

OTC

7.17

−4.1

3.9

n.d.

80

55

63

3

4, 5, 9

1, 4, 6,

1000

1951

2213

30

M

OTC

7.36

1.4

2.5

50.5

110

84

98

4

1

1, 3

1494

3516

3516

34

8

M

OTC

7.48

−4.1

2.9

21.5

n.d.

n.d.

n.d.

3

1

1, 6

750

1750

1750

34

M

ASS1

7.55

0

3.7

25.8

121

83

94

4

1, 2

1, 4

1078

590

1078

12

10°

F

ASS1

7.39

−3.8

7.2

33.2

95

64

74

3

1

1, 3

232

1430

1430

35

11°

M

ASS1

7.55

−5.5

5.2

19.7

95

65

78

4

2,4

1, 4

735

1104

1104

14

12°

F

ASS1

7.55

−2.3

4.9

20.4

111

70

91

4

2, 4, 5

1, 4, 6

484

1091

1091

33

13°

M

ASS1

7.48

−3.4

2.7

24.3

92

61

71

3

1, 6

1, 6

235

1376

1645

24

14°

F

ASS1

7.45

0.4

3.5

34.7

110

88

95

4

1

1

1399

1734

> 2000

15

15*†°

M

ASS1

7.34

−7.6

5.9

32.0

85

61

71

7

−/−*

4

402

n.d.

402

4

16°

F

ASL

7.36

−4.9

5.8

35.0

110

84

89

3

1, 2, 3

1, 3, 6

1256

1082

1256

24

17°

M

ASL

7.52

2.4

n.d.

29.5

108

88

94

6

1, 2, 4

1, 3, 5

1065

1100

1100

41

  1. ASL, Argininosuccinate lyase; ASS1, Argininosuccinate synthetase 1; CPS1, Carbamylphosphate synthetase 1; CO2, Carbon dioxide; DBP, Diastolic blood pressure; F, Female; M, Male; NH4+, Plasma ammonium concentration; No, Number; MAD, Mean arterial pressure; NICU, Neonatal intensive care unit; SBP, Systolic blood pressure; OTC, Ornithine transcarbamylase deficiency;
  2. #Symptoms: 1: respiratory distress, 2: poor feeding, feeding difficulties, 3: muscular hypertonia, 4: lethargy/ muscular hypotonia, 5: hypothermia, 6: acrocyanosis, 7: seizures, 8: vomiting, 9: hypoglycemia
  3. ° = blood pressure above the 95th percentile * = identified by newborn screening, †= not transferred to our centre; n.d. = not documented,