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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,