Abstract
BACKGROUND AND AIMS: Altered bile acids (BA) are key drivers of hepatic disorders and beyond. The breakdown of BA profiles could serve as advanced biomarkers, but data in pediatric patients is scarce. In this work we retrospectively analyzed routine BA profiles of various pediatric gastrointestinal, hepatic and biliary diseases. METHODS: Routine tandem mass spectrometry derived serum BA profiles from a ten-year period (2014–2024) of a pediatric tertiary care center were analyzed. First, guidance values for 15 bile acid components for six age groups were established. Next, BA profiles were examined across gastrointestinal, hepatic and biliary diseases. RESULTS: A total of 1906 bile acid profiles from n = 524 patients were analyzed, with 1341 (n = 167) profiles from patients with gastrointestinal, 222 (n = 143) with hepatic, and 269 (n = 159) with biliary diseases. Total primary BA were found to be higher in younger compared to older children, with an increase in secondary BA with age. Significant BA alterations were observed in patients with certain hepatic and biliary diseases including an increased primary to secondary BA ratio, a reduced proportion of unconjugated BA and increased glycine- to taurine-conjugation ratio. CONCLUSION: We provide guidance BA profile values for different pediatric age groups and an overview of altered BA profiles in gastrointestinal, hepatic and biliary diseases. This work emphasizes the potential of BA profiles as a diagnostic tool and could serve as a guide for clinical interpretation and as framework for future studies in the field. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40348-025-00211-2.