title: Diagnostic determination system for high-risk screening for inborn errors of bile acid metabolism based on an analysis of urinary bile acids using gas chromatography-mass spectrometry: results for 10 years in Japan.
abstract: BACKGROUND
  Some patients with cholestasis of unknown cause may have inborn errors of bile acid metabolism (IEBAM) thus causing abnormalities of bile acid biosynthesis. Although seven types of bile acid synthetic defects have thus far been reported for this disorder, no detailed information on its incidence and so on in Japan is yet available. In order to elucidate the current status of IEBAM in Japan, in July 1996 a diagnostic determination system was established for high-risk screening for IEBAM.
  
  
  METHODS
  Urinary bile acids were analyzed on gas chromatography-mass spectrometry (GC-MS) and quantitative analysis was done using selected ion monitoring (SIM).
  
  
  CONCLUSIONS
  In a total of 576 samples analyzed over the 10 year period prior to June 2005, 159 patients were found with cholestasis of unknown etiology. Of these patients, 10 (6.3%) were found to have IEBAM by this system, while 91 (61.1%) had cholestasis without a definitive diagnosis. This diagnostic determination system with GC-MS of urinary bile acids is therefore considered useful for detecting IEBAM.
authors.affiliation: Junshin Clinic, Bile Acid Institute, Juntendo University School of Medicine, Tokyo, Japan. junsin@h4.dion.ne.jp
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nittono
authors.forename: Hajime
authors.initials: H
authors.lastname: Takei
authors.forename: Atsushi
authors.initials: A
authors.lastname: Unno
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kimura
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Shimizu
authors.forename: Takao
authors.initials: T
authors.lastname: Kurosawa
authors.forename: Masahiko
authors.initials: M
authors.lastname: Tohma
authors.forename: Sadahiko
authors.initials: S
authors.lastname: Tohma
authors.forename: Mizuho
authors.initials: M
authors.lastname: Une
mesh_terms: D000293:Adolescent; D000328:Adult; D001647:Bile Acids and Salts / Q000378:metabolism* / Q000652:urine; D002648:Child; D002779:Cholestasis / Q000209:etiology* / Q000378:metabolism; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis; D043202:Steroid Metabolism, Inborn Errors / Q000175:diagnosis*; D055815:Young Adult; D015211:Zellweger Syndrome / Q000175:diagnosis
chemical_list: D001647:Bile Acids and Salts