Patient’s information | 5 d (NBS) | 18 d | 26 d | 45 d | 79 d | Reference range |
---|---|---|---|---|---|---|
C0 (μmol/L) | 3.5 | 3.5 | 54.5 | 14.6 | 36.4 | 8.5–50 |
Citrulline (μmol/L) | 28.8 | 277.2 | 565.6 | 73 | 51.5 | 6.0–34 |
Citrulline/Arg | 3.2 | 4.3 | 5.3 | 1.5 | 1.5 | 0.3–6.5 |
Citrulline/Phe | 0.7 | 2.5 | 5.7 | 1.2 | 1 | 0.05–0.7 |
Methionine (μmol/L) | 28.2 | 69 | 231 | 66.4 | 42 | 8–38 |
Arginine (μmol/L) | 9 | 64.1 | 106.9 | 49.1 | 35.3 | 1–50 |
Phenylalanine (μmol/L) | 43.7 | 111.6 | 99.3 | 59.3 | 50.7 | 20–100 |
Total bile acid (μmol/L) | 182.6 | 18.9 | 35.9 | 0–10 | ||
Total bilirubin (μmol/L) | 339.8 | 226.8 | 37.7 | 5.1–19 | ||
Direct bilirubin (μmol/L) | 31.8 | 18.2 | 15.9 | 0–6.8 | ||
ALT (U/L) | 33 | 16 | 34 | 0–40 | ||
AST (U/L) | 84 | 27 | 47 | 0–40 | ||
γ-GT (IU/L) | 151 | 128 | 216 | 0–50 | ||
Ammonia (μmol/L) | 47 | 10–47 | ||||
α-Fetoprotein (ng/mL) | 60,786.7 | 82,407.8 | 23,101.1 | 0–8.1 | ||
Total protien (g/L) | 41.5 | 44.4 | 47.5 | 60–80 | ||
Hemoglobin (g/L) | 95 | 110–116 | ||||
Blood sugar (mmol/L) | 4.2 | 4.6 | 5 | 3.8–6.1 | ||
CK (IU/L) | 63 | 26–174 | ||||
CK-MB (U/L) | 15 | 0–35 | ||||
Genotype | SLC22A5: c.51C > G + c.760C > T, SLC25A13: c.615 + 5G > A + IVS16ins3kb | |||||
Clinical presentations | Intrahepatic cholestasis, ventricular septal defect |