Table 1 Clinical characteristics and laboratory tests of the children admitted to our hospital on two occasions
Onset time | 2018.01.14 | 2020.05.21 |
Clinical symptoms | ||
Fever | + | - |
Vomiting | + | + |
Headache | - | + |
Irritable | + | - |
Dispirited | + | + |
Coma | - | - |
Poor appetite and sleep | + | + |
Urination and defecation | Normal | Normal |
Arterial blood gas analysis | Lost information | |
PH (reference, 7.25–7.45) | - | 7.348 |
PO2 (reference, 50-80mmHg) | - | Lost information |
PCO2 (reference, 40-60mmHg) | - | Lost information |
HCO3- (reference, 19-30mmol/L) | - | 22.5 |
BE (reference, –3 to + 3mmol/L) | - | -1.3 |
Lac (reference, 0.5 to 2.2mmol/L) | - | 1.8 |
Three routine (blood,urine, feces) | Normal | Normal |
Blood biochemical tests | Normal | Normal |
Blood ammonia (reference, 11.2 ~ 48.2µmol/L) | Not Sent | 287↑ |
Blood mass spectrometry profile | Not done | |
Citrulline (reference, 5.45–36.77µmol/L) | - | 4.26↓ |
Alanine (reference, 148.80-739.74µmol/L) | - | 757.06↑ |
Urinary organic acids | Not done | |
Urinary orotic acid (reference, 0-2mmol/L) | - | 0.0 |
Urinary uracil (reference, 0-8mmol/L) | - | 0.0 |
Cerebrospinal fluid | Normal | Normal |
Cephalometric MRI(Abnormal signals in the white matter of the brain) | + | + |
Abdominal Imaging (Hepatomegaly) | + | + |
Electroencephalogram (Background activity slowing down) | - | + |
CPS1 sequencing | Not done | |
Allele 1 (from father) | - | c.1145 C > T |
Allele 2 (from mother) | - | c.4080_c.4091delAGGCATCCTGAT |