title: SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
authors.forename: Isao
authors.initials: I
authors.lastname: Ueki
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kimura
authors.forename: Huey-Ling
authors.initials: HL
authors.lastname: Chen
authors.forename: Tohru
authors.initials: T
authors.lastname: Yorifuji
authors.forename: Jun
authors.initials: J
authors.lastname: Mori
authors.forename: Susumu
authors.initials: S
authors.lastname: Itoh
authors.forename: Kenichi
authors.initials: K
authors.lastname: Maruyama
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishige
authors.forename: Hajime
authors.initials: H
authors.lastname: Takei
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nittono
authors.forename: Takao
authors.initials: T
authors.lastname: Kurosawa
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Kage
authors.forename: Toyojiro
authors.initials: T
authors.lastname: Matsuishi
mesh_terms: D001344:Autopsy; D001647:Bile Acids and Salts / Q000652:urine; D002779:Cholestasis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010088:Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D010641:Phenotype; D011237:Predictive Value of Tests; D013624:Taiwan; D016896:Treatment Outcome
chemical_list: D001647:Bile Acids and Salts; D010088:Oxidoreductases; C051860:cholestenone 5 beta-reductase