Treatment options include liver transplantation (4, 5) or preferably oral bile acid therapy with the primary bile acids, cholic or chenodeoxycholic acids (1, 6-12).
5]bile acids cannot be used to monitor response to primary bile acid therapy in patients with HSD3B7 deficiency, the goal of which is to demonstrate a reduction or disappearance of these hepatotoxic atypical bile acids in the urine.
5]-bile acids when GC-MS is used for their measurement, which invalidates GC-MS for monitoring responses to bile acid therapy (8, 11) and indicates the importance of direct quantification of these atypical bile acids.
The ability to accurately quantify concentrations of these atypical bile acids, however, is crucial to the evaluation of oral primary bile acid therapy, in which therapeutic efficacy is contingent on suppressing endogenous bile acid synthesis to effect a reduction in the synthesis and urinary excretion of these hepatotoxic bile acids (1, 7, 10, 12).
5]-cholen-24-oic acids in urine and provided an improved approach for evaluating the responsiveness to bile acid therapy.