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Table 1 The biochemical, genetic, and clinical features of patient with PCD and NICCD

From: Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

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
  1. NBS newborn screening, d day, C0 free carnitine, ALT alanine transaminase, AST aspartate transaminase, γ-GT gamma-glutamyl transpeptidase, CK creatine phosphokinase, CK-MB creatine kinase isoenzyme