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.
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.
Nittono
Hiroshi
H
Junshin Clinic, Bile Acid Institute, Juntendo University School of Medicine, Tokyo, Japan. junsin@h4.dion.ne.jp
Takei
Hajime
H
Unno
Atsushi
A
Kimura
Akihiko
A
Shimizu
Toshiaki
T
Kurosawa
Takao
T
Tohma
Masahiko
M
Tohma
Sadahiko
S
Une
Mizuho
M
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
D001647:Bile Acids and Salts