Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study
Table 1
Biochemical changes over time in the NICCD infant.
Biochemical indices
2.0M
2.3M
2.4M
2.5M
2.6M
2.8M
3.0M
3.7M
4.8M
8.8M
17.7M
ALT (5–40 U/L)
46.00
29.80
40.39
34.48
33.00
30.00
19.23
20.00
174.00
63.00
27.00
AST (5–40 U/L)
83.00
127.50
116.92
73.47
72.00
62.00
45.02
37.00
172.00
54.00
30.00
GGT (8–50 U/L)
—
—
131.13
139.63
183.00
185.00
475.33
211.00
109.00
54.00
26.00
ALP (20–500 U/L)
—
—
246.65
205.63
259.00
201.00
269.91
385.00
418.00
243.00
251.00
TP (60.0–83.0 g/L)
33.90
66.20
67.53
66.32
62.80
63.70
65.39
54.40
61.70
66.00
62.80
Alb (35.0–55.0 g/L)
21.30
36.94
39.66
39.23
35.00
37.60
40.87
37.50
41.80
45.80
43.80
Glb (20.0–30.0 g/L)
—
29.26
27.87
27.09
27.80
26.10
24.52
16.90
19.90
20.20
19.00
Tbil (2–19 μmol/L)
178.60
163.09
172.99
92.56
56.50
60.90
63.61
38.40
44.70
3.20
6.20
Dbil (0–6 μmol/L)
70.70
66.76
79.86
48.95
35.10
31.90
35.04
31.00
36.30
1.00
2.00
Ibil (2.56–20.9 μmol/L)
107.9
96.33
93.13
43.61
21.40
29.00
28.57
7.40
8.40
2.20
4.20
TBA (0–10 μmol/L)
—
33.86
39.35
54.43
—
73.50
44.45
173.60
169.7
11.30
8.80
AFP(0–12 ng/mL)
—
—
—
—
—
—
—
10709.20
887.20
—
1.90
ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, γ-glutamyl transpeptidase; ALP, alkaline phosphatase; TP, total protein; Alb, albumin; Glb, globulin; Tbil, total bilirubin; Dbil, direct bilirubin; Ibil, indirect bilirubin; TBA, total bile acid; AFP, alpha-feto protein. M, months of age. —, not tested. When the breast milk feeding was stopped while a galactose-free and MCT-enriched therapeutic formula was introduced.
