Comprehensive Urinary Bile Acid Profiling in Patients Investigated for Inborn Errors of Bile Acid Synthesis Using LC–MS/MS
6 affiliations
- 1Department of Medical Biochemistry, Faculty of Medicine, Hacettepe University, 06100 Ankara, Türkiye
- 2Scientific and Technological Research Center, Sinop University, 57000 Sinop, Türkiye
- 3Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Hacettepe University, 06100 Ankara, Türkiye
- 4Department of Pediatric Basic Sciences, Institute of Child Health, Hacettepe University, 06100 Ankara, Türkiye
- 5Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Faculty of Medicine, Hacettepe University, 06100 Ankara, Türkiye
- 6Clinical Chemistry Laboratory, Hacettepe University Hospitals, 06100 Ankara, Türkiye
Abstract
Background/Objectives: This study examined urinary cholanoid profiles in a descriptive case series evaluated for suspected inborn errors of bile acid synthesis (IEBAS) or unexplained cholestasis. Methods: Urinary excretion of 66 bile acid metabolites was measured using liquid chromatography–tandem mass spectrometry (LC-MS/MS), and concentrations were interpreted as semi-quantitative estimates. In addition, cholesterol, cholestanol, and 7-dehydrocholesterol were analyzed by gas chromatography–mass spectrometry (GC-MS). Results: Five patients had genetically confirmed IEBAS: 3β-hydroxy-Δ5-C27-steroid dehydrogenase (HSD3B7) deficiency in 2 patients and cerebrotendinous xanthomatosis (CTX) in 3 patients. Two patients were subsequently diagnosed with biliary atresia and progressive familial intrahepatic cholestasis type 1. Other patients remained without a definitive etiological diagnosis. Of the two patients with genetically confirmed HSD3B7 deficiency, patient 1 showed a predominance of 3β-hydroxy-Δ5 bile acids (63.9% of total urinary bile acids), including sulfated dihydroxy-, glycine-conjugated dihydroxy-, and trihydroxy-Δ5 species. Patient 2 had an atypical urinary bile acid profile, with the 3β-hydroxy-Δ5 fraction dominated by a monohydroxy species. CTX patients had profiles with a different bile acid group composition; hydroxylated bile acids were reported in 2 patients, whereas no numerical result was reported for 1 patient. The 3β-hydroxy-Δ5 bile acid levels in 1 CTX patient were within the observed control range. Two patients also had differential profiles for hydroxylated and 3β-hydroxy-Δ5 bile acids, which provided biochemical findings for further etiological evaluation. The species assigned to glycoursodeoxycholic acid predominated in the urinary profiles of the five patients receiving ursodeoxycholic acid. Conclusions: Urinary cholanoid profiling may provide complementary biochemical information alongside the available clinical and genetic findings in the evaluation of suspected IEBAS.
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BibTeX
@article{obuz2026comprehensive,
title = {{Comprehensive Urinary Bile Acid Profiling in Patients Investigated for Inborn Errors of Bile Acid Synthesis Using LC–MS/MS}},
author = {Ufuk Bozkurt Obuz and Duygu Demirtaş Güner and Ersin Gümüş and Basri Gülbakan and Hülya Demir and Hasan Özen and Turgay Coşkun and İncilay Lay},
journal = {Metabolites},
year = {2026},
month = oct,
doi = {10.3390/metabo16100753},
url = {https://www.mdpi.com/2218-1989/16/10/753},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Comprehensive Urinary Bile Acid Profiling in Patients Investigated for Inborn Errors of Bile Acid Synthesis Using LC–MS/MS
AU - Ufuk Bozkurt Obuz
AU - Duygu Demirtaş Güner
AU - Ersin Gümüş
AU - Basri Gülbakan
AU - Hülya Demir
AU - Hasan Özen
AU - Turgay Coşkun
AU - İncilay Lay
PY - 2026
DA - 2026/10/01
JO - Metabolites
DO - 10.3390/metabo16100753
UR - https://www.mdpi.com/2218-1989/16/10/753
AB - Background/Objectives: This study examined urinary cholanoid profiles in a descriptive case series evaluated for suspected inborn errors of bile acid synthesis (IEBAS) or unexplained cholestasis. Methods: Urinary excretion of 66 bile acid metabolites was measured using liquid chromatography–tandem mass spectrometry (LC-MS/MS), and concentrations were interpreted as semi-quantitative estimates. In addition, cholesterol, cholestanol, and 7-dehydrocholesterol were analyzed by gas chromatography–mass spectrometry (GC-MS). Results: Five patients had genetically confirmed IEBAS: 3β-hydroxy-Δ5-C27-steroid dehydrogenase (HSD3B7) deficiency in 2 patients and cerebrotendinous xanthomatosis (CTX) in 3 patients. Two patients were subsequently diagnosed with biliary atresia and progressive familial intrahepatic cholestasis type 1. Other patients remained without a definitive etiological diagnosis. Of the two patients with genetically confirmed HSD3B7 deficiency, patient 1 showed a predominance of 3β-hydroxy-Δ5 bile acids (63.9% of total urinary bile acids), including sulfated dihydroxy-, glycine-conjugated dihydroxy-, and trihydroxy-Δ5 species. Patient 2 had an atypical urinary bile acid profile, with the 3β-hydroxy-Δ5 fraction dominated by a monohydroxy species. CTX patients had profiles with a different bile acid group composition; hydroxylated bile acids were reported in 2 patients, whereas no numerical result was reported for 1 patient. The 3β-hydroxy-Δ5 bile acid levels in 1 CTX patient were within the observed control range. Two patients also had differential profiles for hydroxylated and 3β-hydroxy-Δ5 bile acids, which provided biochemical findings for further etiological evaluation. The species assigned to glycoursodeoxycholic acid predominated in the urinary profiles of the five patients receiving ursodeoxycholic acid. Conclusions: Urinary cholanoid profiling may provide complementary biochemical information alongside the available clinical and genetic findings in the evaluation of suspected IEBAS.
SN - 2218-1989
ER -