title: Differential diagnosis in patients with suspected bile acid synthesis defects.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children´s Hospital, Heidelberg D-69120, Germany. dorothea.haas@med.uni-heidelberg.de
authors.forename: Dorothea
authors.initials: D
authors.lastname: Haas
authors.forename: Hongying
authors.initials: H
authors.lastname: Gan-Schreier
authors.forename: Claus-Dieter
authors.initials: CD
authors.lastname: Langhans
authors.forename: Tilman
authors.initials: T
authors.lastname: Rohrer
authors.forename: Guido
authors.initials: G
authors.lastname: Engelmann
authors.forename: Maura
authors.initials: M
authors.lastname: Heverin
authors.forename: David W
authors.initials: DW
authors.lastname: Russell
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Jürgen G
authors.initials: JG
authors.lastname: Okun
mesh_terms: D000293:Adolescent; D000328:Adult; D001647:Bile Acids and Salts / Q000096:biosynthesis* / Q000652:urine; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008107:Liver Diseases / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency / Q000235:genetics; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult
chemical_list: D001647:Bile Acids and Salts; D010088:Oxidoreductases