Skip to main content

Advertisement

Table 1 ATP8B1 mutation and biochemical parameters in patients enrolled in this study

From: Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1

  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