Table 1.
Clinical and laboratory data of the two patients with CPS1D.
| Patients | P1 | P2 |
|---|---|---|
| Gender | Female | Female |
| Age at onset | 2D | 3D |
| Age deceased | 5D | 4D |
| Complications during pregnancy | Uneventful | uneventful |
| Weeks gestation at delivery | 40 | 39+5 |
| Birth weight (kg), Apgar score | 2.95, 10 | 2.9, 10 |
| Clinical course | fulminant | fulminant |
| Clinical features | ||
| Fever | + | − |
| Seizure | + | − |
| Coma | + | + |
| Cyanosis | + | + |
| Breathing | weak | grunting |
| Hemorrhage | − | Lung, stomach |
| Cardiac failure | + | + |
| Poor feeding | + | + |
| Abdominal distention | + | |
| Urine | oliguria | anuria |
| Arterial blood gas analysis | ||
| PH (reference, 7.25-7.45) | 7.13↓ | 7.10↓ |
| PO2 (reference, 50-80 mm Hg) | 67 | 72 |
| PCO2 (reference, 40-60 mm Hg) | 42 | 62↑ |
| HCO3 (reference, 19-30 mmol/L) | 12↓ | 19.2 |
| BE (reference, –3 to +3) | −18↓ | −10.5↓ |
| Blood routine test | ||
| Red blood cells (reference, 3.5-5.5×1012/L) | 5.68↑ | 3.35↓ |
| White blood cells (reference, 5.0-14.5×109/L) | 22.06↑ | 24.77 |
| Platelet count (reference, 100-300×109/L) | 354↑ | 290 |
| Hemoglobin (reference, 138-218 g/L) | 195 | 117↓ |
| Urine routine test | ||
| BLD (negative) | ++ | +++ |
| PRO (negative) | ++ | + |
| KET (negative) | – | – |
| Blood biochemical tests | ||
| ALT (reference, 0-38 U/L) | 37 | 24 |
| Lactic acid (reference, 0.7-2.1 mmol/L) | 5.8↑ | 5.6↑ |
| Glucose (reference, 3.3-6.1 mmol/L) | 0.3↓ | 12↑ |
| Potassium (reference, 3.5-5.5 mmol/L) | 7.4↑ | 4.6 |
| Sodium (reference, 135-145 mmol/L) | 154↑ | 142 |
| AST (reference, 0-38 U/L) | 130↑ | 78↑ |
| CK (reference, 21-220 U/L) | 936↑ | 780↑ |
| CK-MB (reference, 0-25 U/L) | 30↑ | 67↑ |
| PCT (reference, ≤0.5 ng/ml) | 67.322↑ | 0.794↑ |
| ammonia (reference, 18-72 μmol/L) | 1404↑ | 823↑ |
| Blood mass spectrometry profile | ||
| Citrulline (reference, 4-30 μmol/L) | 3.82↓ | 3.08↓ |
| Alanine (reference, 62.9-328 μmol/L) | 1264.4↑ | 3337.99↑ |
| Proline (reference, 72-293 μmol/L) | 634.45↑ | 413.38↑ |
| Ornithine (reference, 42-358 μmol/L) | 69.01 | 106.95 |
| Urinary organic acids | ||
| Urinary orotic acid (reference, 0-2 mmol/L) | 0 | 0 |
| Urinary 3-MGA (reference, 0-4 mmol/L) | 15.7↑ | 45.75↑ |
| Chest X-ray | ||
| Pneumonia | + | – |
| Pneumorrhagia | – | + |
| Echocardiography | ||
| Ejection fraction | 38%↓ | 37%↓ |
| Patent ductus arteriosus | + | − |
| Patent foramen ovale | + | + |
| CPS1 sequencing | ||
| Allele 1 (from father) | c.1631C > T (p.T544M) | c.2896G > T (p.E966X) |
| Allele 2 (from mother) | c.1981G > T (p.G661C) | c.622-3C > G |
+positive, ↑elevated, ↓decreased.