Document Detail

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
MedLine Citation:
PMID:  19175828     Owner:  NLM     Status:  MEDLINE    
BACKGROUND AND AIM: We encounter hyper-3-oxo-Delta(4) bile aciduria in patients with severe cholestatic liver disease or fulminant liver failure during the neonatal period. However, simply by bile acid analysis, it is difficult to distinguish hyper-3-oxo-Delta(4) bile aciduria from primary 3-oxo-Delta(4)-steroid 5beta-reductase deficiency.
METHODS: To determine whether 3-oxo-Delta(4)-steroid 5beta-reductase (SRD5B1) gene analysis is required for the accurate diagnosis of 3-oxo-Delta(4)-steroid 5beta-reductase deficiency, we evaluated the laboratory data, bile acid analysis and SRD5B1 gene analysis from six patients with hyper-3-oxo-Delta(4) bile aciduria.
RESULTS: Based upon the results, four patients who had developed neonatal liver failure were diagnosed as having neonatal hemochromatosis. Two patients with chronic cholestasis were diagnosed as having primary 3-oxo-Delta(4)-steroid 5beta-reductase deficiency by SRD5B1 gene analysis. The SRD5B1 gene in these two patients had a heterozygous mutation, G737A (Gly 223 Glu) in one patient and C217T (Arg 50 stop) in the other.
CONCLUSIONS: Based upon our limited data, we conclude that SDR5B1 gene analysis is required for the accurate diagnosis of 3-oxo-Delta(4)-steroid 5beta-reductase deficiency. Moreover, we think that it is important to elucidate whether there is a heterozygous or a compound heterozygous mutation of the SRD5B1 gene in our two patients.
Isao Ueki; Akihiko Kimura; Huey-Ling Chen; Tohru Yorifuji; Jun Mori; Susumu Itoh; Kenichi Maruyama; Takashi Ishige; Hajime Takei; Hiroshi Nittono; Takao Kurosawa; Masayoshi Kage; Toyojiro Matsuishi
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Publication Detail:
Type:  Case Reports; Journal Article; Multicenter Study     Date:  2008-11-03
Journal Detail:
Title:  Journal of gastroenterology and hepatology     Volume:  24     ISSN:  1440-1746     ISO Abbreviation:  J. Gastroenterol. Hepatol.     Publication Date:  2009 May 
Date Detail:
Created Date:  2009-08-03     Completed Date:  2009-10-15     Revised Date:  2012-05-25    
Medline Journal Info:
Nlm Unique ID:  8607909     Medline TA:  J Gastroenterol Hepatol     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  776-85     Citation Subset:  IM    
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
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MeSH Terms
Bile Acids and Salts / urine
Cholestasis / diagnosis,  enzymology,  genetics
DNA Mutational Analysis*
Diagnosis, Differential
Fatal Outcome
Genetic Testing*
Infant, Newborn
Liver / enzymology,  pathology
Metabolism, Inborn Errors / diagnosis,  enzymology,  genetics*,  therapy
Oxidoreductases / deficiency,  genetics*
Predictive Value of Tests
Treatment Outcome
Reg. No./Substance:
0/Bile Acids and Salts; EC 1.-/Oxidoreductases; EC 5 beta-reductase

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