Table 1. Clinical and biochemical characteristic of present patients.
| No. | AD, dd/mm/yy | Sex | AA, mon | AW, kg | GA, w | BW, kg | Reason for 1st visit | Gene mutation of SLC10A1 | ALT, U/L | AST, U/L | GGT, U/L | TB, μmol/L | DB, μmol/L | ALB, g/L | TBA, μmol/L | VD, ng/mL | NH3, μmol/L | Other gene mutation | Family history |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | 26/12/2018 | F | 6.8 | 9.00 | 39+1 | 3.15 | Jaundice | c.800C>T, hom | 30 | 43 | 12 | 11.9 | 4.4 | 45.3 | 104.2 | 36.8 | 13 | UGT1A11 | +6 |
| P2 | 08/03/2019 | M | 70.0 | 20.00 | 40 | 3.45 | Medical examination | c.800C>T, hom | 10 | 24 | 9 | 9.3 | 3.8 | 41.8 | 148.1 | – | 24 | – | – |
| P3 | 24/04/2019 | M | 11.7 | 9.50 | 38 | 3.15 | Jaundice | c.800C>T, hom | 13 | 41 | 9 | 5.5 | 2.3 | 47.6 | 41.7 | – | 48 | SLC25A132 | – |
| P4 | 03/05/2019 | M | 2.2 | – | – | – | Jaundice | c.800C>T, hom | 75 | 112 | 249 | 79.6 | 58 | 33.6 | 180 | <8 | 49 | – | – |
| P5 | 11/05/2019 | M | 3.7 | 6.80 | 39+4 | 3.10 | Jaundice | c.800C>T, hom | 29 | 36 | 656 | 39 | 0 | 42.2 | 162.4 | – | – | UGT1A13 | – |
| P6 | 30/07/2019 | M | 13.0 | 10.50 | 34+2 | 2.10 | Preterm birth | c.800C>T, hom | 19 | 47 | 10 | 7.3 | 2.1 | 44.4 | 32.5 | – | – | UGT1A14 | – |
| P7 | 19/08/2019 | F | 8.9 | 7.75 | 37+5 | 2.35 | Pneumonia | c.800C>T, hom | 19 | 40 | <6 | 7.6 | 2.8 | 41.9 | 49.6 | – | – | – | – |
| P8 | 24/09/2019 | M | 49.0 | 19.00 | 40+3 | 4.00 | Tonsillitis | c.800C>T, hom | 10 | 26 | <6 | 8 | 2.4 | 43 | 93.3 | – | – | – | – |
| P9 | 24/10/2019 | F | 5.8 | 7.75 | 39+2 | 3.00 | Pneumonia | c.800C>T, hom | 34 | 57 | 13 | 8.7 | 3.1 | 51.7 | 117.3 | – | – | – | – |
| P10 | 27/12/2019 | M | 4.0 | 7.75 | 36+3 | 2.75 | Pneumonia | c.800C>T, hom | 21 | 37 | 16 | 11.5 | 5.3 | 44.5 | 43.1 | – | 36.5 | UGT1A15 | +7 |
| P11 | 18/03/2020 | M | 31.0 | 13.50 | 39+6 | 3.60 | Medical examination | c.800C>T, hom | 10 | 29 | 8 | 4.4 | 1.3 | 43.2 | 86.3 | 27.3 | – | – | – |
| P12 | 22/07/2020 | F | 10.8 | 7.80 | 40+2 | 4.20 | Pneumonia | c.800C>T, hom | 23 | 42 | 12 | 6 | 1.7 | 46.7 | 71.9 | 33.7 | – | – | – |
1, homozygous mutations of UGT1A1 (c.211G>A); 2, single heterozygous mutation of SLC25A13 (c.852_855del); 3, compound heterozygous mutations of UGT1A1 (c.211G>A and c.1099C>T); 4, homozygous mutations of UGT1A1 (c.211G>A); 5, single heterozygous mutation of UGT1A1 (c.1352C>T); 6, the mother has homozygous mutations of SLC10A1; 7, the father and mother have homozygous mutations of SLC10A1. AD, admitted date; AA, admitted age; AW, admitted weight; GA, gestational age; BW, birth weight; ALT, alanine aminotransferase (normal range, 0 to 49 U/L); AST, aspartate aminotransferase (normal range, 0 to 40 U/L); GGT, γ-glutamyl transpeptidase (normal range, <38 U/L); TB, total bilirubin (normal range, 5 to 21 μmol/L); DB, direct bilirubin (normal range, <6.8 μmol/L)); ALB, albumin (normal range, 38.0 to 54.0 g/L); TBA, total bile acid (normal range, 0 to 10 μmol/L); VD, 25-hydroxy vitamin D (normal range, 20 to 100 ng/mL; 50 to 250 μmol/L); NH3, blood ammonia (normal range, 5.88 to 35.3 μmol/L).