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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