In a limited number of infants with low—glutamyl transferase (GGT) cholestasis leading to liver failure, pathogenic sequence variations in the nuclear bile acid receptor FXR, encoded by NR1H4, have been identified. We present three more children from two separate families who had cholestasis and liver failure as a result of pathogenic mutations in NR1H4. One patient received a liver transplant and has had favorable clinical results after six years of follow-up. Despite having biochemical indications of enhanced bile acid synthesis activity, that patient did not have post-transplant diarrhoea or allograft steatosis, as has been described in other transplanted individuals.