Differential diagnosis in patients with suspected bile acid synthesis defects

Dorothea Haas, Hongying Gan-Schreier, Claus Dieter Langhans, Tilman Rohrer, Guido Engelmann, Maura Heverin, David W. Russell, Peter T. Clayton, Georg F. Hoffmann, Jürgen G. Okun

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


AIM: To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of individual disorders and diagnostic pitfalls. METHODS: Authors describe semiquantitative determination of 16 urinary bile acid metabolites by electrospray ionization-tandem mass spectrometry. Sample preparation was performed by solid-phase extraction. The total analysis time was 2 min per sample. Authors determined bile acid metabolites in 363 patients with suspected defects in bile acid metabolism. RESULTS: Abnormal bile acid metabolites were found in 36 patients. Two patients had bile acid synthesis defects but presented with atypical presentations. In 2 other patients who were later shown to be affected by biliary atresia and cystic fibrosis the profile of bile acid metabolites was initially suggestive of a bile acid synthesis defect. Three adult patients suffered from cerebrotendinous xanthomatosis. Nineteen patients had peroxisomal disorders, and 10 patients had cholestatic hepatopathy of other cause. CONCLUSION: Screening for urinary cholanoids should be done in every infant with cholestatic hepatopathy as well as in children with progressive neurological disease to provide specific therapy.

Original languageEnglish (US)
Pages (from-to)1067-1076
Number of pages10
JournalWorld Journal of Gastroenterology
Issue number10
StatePublished - 2012


  • Bile acid synthesis defects
  • Biliary atresia
  • Cholestatic liver disease
  • Electrospray-ionization tandemmass-spectrometry

ASJC Scopus subject areas

  • Gastroenterology


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