Differential diagnosis in patients with suspected bile acid synthesis defects.

ABSTRACT:

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

SUBMITTER: Haas D 

PROVIDER: S-EPMC3296980 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature