Mutations in ABCB4 (PFIC3/MDR3 deficiency) are associated with progressive cholestasis, moderate to severe pruritus, extrahepatic manifestation, and increased risk of hepatobiliary malignancies (Baker et al., 2019; Hassan and Hertel, 2022). Here, ABCB4 is linked to hyperinsulinemic hypoglycemia, familial, 4.