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| Patients | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 |
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| Gender | M | M | M | M | M | M | F | M | M |
| Age at onset (days) | 7 | 7 | 2 | 6 | 2 | 3 | 5 | 1 | 1 |
| Age deceased (days) | 170 | 165 | 7 | Survival | 3 | 7 | Survival | 5 | 3 |
| Gestation age (weeks) | 40.29 | 38.29 | 39.86 | 38.14 | 36.14 | 36.14 | 37.57 | 41 | 32 |
| Birth weight (g) | 4300 | 3900 | 3870 | 3750 | 2370 | 2230 | 3700 | 4080 | 1580 |
| Complications during pregnancy | Uneventful | Uneventful | Uneventful | Uneventful | Uneventful | Uneventful | Uneventful | Uneventful | Developed acute hyperammonemia during pregnancy |
| Family history | Positive | — | — | — | Positive | Positive | — | — | Positive |
| Clinical course | Fulminant | Fulminant | Fulminant | Fulminant | Fulminant | Fulminant | Fulminant | Fulminant | Fulminant |
| Clinical features |
| Seizures (HP:0001250) | Positive | Positive | Positive | Positive | Positive | Positive | — | — | — |
| Somnolence (HP:0001262) | Positive | Positive | Positive | Positive | Positive | Positive | Positive | Positive | Positive |
| Decreased liver function (HP:0001410) | Positive | — | — | — | — | — | Positive | — | — |
| Acute encephalopathy (HP:0006846) | Positive | Positive | Positive | Positive | Positive | Positive | Positive | Positive | Positive |
| Coma (HP:0001259) | — | No coma at the first episode, coma at the second episode | Positive | Positive | Positive | Positive | — | — | Positive |
| Fever (HP:0001945) | — | Positive | Positive | — | — | — | Positive | — | — |
| Hypothermia (HP:0002045) | — | — | — | — | Positive | Positive | — | Positive | Positive |
| Cyanosis (HP:0000961) | — | — | — | — | Positive | — | — | — | — |
| Neonatal breathing deregulation (HP:0002790) | — | — | Weak, need ventilation | Apnea, need ventilation | Apnea, need ventilation | Weak | — | Tachypnea | Apnea, need ventilation |
| Internal hemorrhage (HP:0011029) | — | — | Cerebral | — | — | — | — | — | — |
| Feeding difficulties (HP:0011968) | Positive | Positive | Positive | Positive | — | Positive | Positive | Positive | No enteral feeding after birth |
| Abdominal distention (HP:0003270) | — | — | — | — | — | — | Positive | — | — |
| Arterial blood gas analysis | | | | | | | | | |
| pH (reference, 7.25-7.45) | 7.38 | 7.42 | 7.4 | 7.43 | 7.45 | 7.45 | 7.41 | 7.47 | 7.21 |
| BE (reference, –3 to +3 mmol/L) | -1.8 | -4.8 | 0.1 | -1.3 | -11.4 | -5.9 | -2.1 | 3.8 | -10.1 |
| Blood biochemical tests | | | | | | | | | |
| ALT (reference, 0-38 U/L) | 125↑ | 34 | 25 | 25 | 23 | 5 | 107↑ | 45↑ | 21 |
| Lactic acid (reference, 0.7-2.1 mmol/L) | 1.9 | 6.4 | 8.2 | 3 | 7.3 | 7 | 1.5 | 2.4 | 8 |
| Glucose (reference, 3.3-6.1 mmol/L) | 4.2 | 5.7 | 2.4 | 3.5 | 1.1 | 3 | 4.8 | 3.8 | 2.9 |
| Culture | — | — | — | — | — | — | Staphylococcus haemolyticus | — | — |
| Ammonia (reference, 9-30 μmol/L) | | | | | | | | | |
| Peak pretreatment ammonia level | 310↑ | First episode: 126↑; second episode: 290↑ | 1367↑ | 1030↑ | 704.3↑ | 228.6↑ | 311↑ | 1004↑ | 1020↑ |
| Final assessment after treatment | 61↑ | First episode: N/A; second episode:219↑ | 1100↑ | 23 | 1258.4↑ | 450.2↑ | 169↑ | 885↑ | 1100↑ |
| Blood mass spectrometry profile | | | | | | | | | |
| Citrulline (reference, 5-40 μmol/L) | 5.953 | First episode: N/A; second episode: 6.112 | 6.261 | 2.71↓ | 3.15↓ | 3.04↓ | 8.776 | 1.58↓ | 27.43 |
| Alanine (reference, 70-350 μmol/L) | 213.014 | First episode: N/A; second episode: 362.021↑ | 375.751↑ | 368.22↑ | 411.70↑ | 301.6 | 295.904 | 462.33↑ | 228.41 |
| Glutamate (reference, 45-200 μmol/L) | 130.149 | First episode: N/A; second episode: 213.893↑ | 404.649↑ | 652.67↑ | 265.41↑ | 195.73 | 263.168↑ | 185.21 | 145.66 |
| Glutamine (reference, 2-35 μmol/L) | 14.047 | First episode: N/A; second episode: 58.012↑ | 97.444↑ | 1577.35↑ | 156.6↑ | 100.62↑ | 14.751↑ | 1104.41↑ | 61.602↑ |
| Ornithine (reference, 20-160 μmol/L) | 36.996 | First episode: N/A; second episode: 100.351 | 122.83 | 38.5 | 29.17 | 31.98 | 41.037 | 54.43 | 161.66↑ |
| Arginine (reference, 3-50 μmol/L) | 7.606 | First episode: N/A; second episode: 21.207 | 91.894↑ | 6.12 | 20.14 | 9.07 | 20.12 | 5.26 | 97.43↑ |
| Urinary organic acids |
| Urinary orotic acid (reference, 0-2 mmol/L) | Absent | First episode: N/A; second episode: 357.21↑ | 641.56↑ | 352.13↑ | 80.5↑ | 12.5↑ | 0.15 | 0.41 | 1372.66↑ |
| Urinary uracil (reference, 0-8 mmol/L) | 4.76 | First episode: N/A; second episode: 35.12↑ | 46.34↑ | 32.03↑ | Absent | 16.3↑ | 0.24 | Absent | 67.11↑ |
| Chest X-ray |
| Pneumonia | — | — | Positive | — | Positive | — | — | — | — |
| Pneumorrhagia | — | — | — | — | — | — | — | — | — |
| Echocardiography | N/A | N/A | N/A | | N/A | N/A | | | N/A |
| Ejection fraction | | | | 62% | | | 59% | 64% | |
| Patent ductus arteriosus | | | | Positive | | | — | — | |
| Decision making | — | — | Give up | — | — | Give up | — | Give up | Give up |
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