| Sex | Age | ATP8B1 mutation in allele 1 | ATP8B1 mutation in allele 2 | AST/ALT/GGT (U/L) | T-Bil/D-Bil/BA (μM) | Pruritus score |
---|---|---|---|---|---|---|---|
Patient 1 | M | 2 | c. 3033-3034del (Frame shift) | Not found | 83/60/36 | 4.8/4.6/301.3 | 4 |
Patient 2 | M | 6 | c.1585-1587TTCdel (p.F529del) | Not found | 81/15/27 | 3.4/3.2/214.1 | 4 |
Patient 3 | M | 16 | c.234C > G (p.H78Q) c.202IT > C (p.M674T) | c.1729A > G (p.I577V) | 63/51/19 | 0.6/0.3/54.6 | 4 |