title: Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis.
abstract: A 3-oxo-delta4-steroid 5beta-reductase (5beta-reductase) deficiency is difficult to diagnose because severe liver damage can result in a similar pattern of metabolite excretion. We investigated the usefulness of immunoblot analysis for diagnosis of 5beta-reductase deficiency and quantitatively analysed urinary bile acids by gas chromatography-mass spectrometry in a 5-month-old Japanese boy with severe neonatal cholestasis associated with hypertyrosinaemia. A liver sample was examined by immunoblot analysis using monoclonal antibodies against 5beta-reductase. Urinary 3-oxo-delta4 bile acids accounted for 88.3% of total bile acids, 5alpha-bile acids for 0.9%, and primary bile acids for 9.1%. Immunoblot analysis of the liver tissue showed an indistinct band of 5beta-reductase.
  
  
  CONCLUSIONS
  These findings suggest that this patient had a secondary 5beta-reductase deficiency due to severe liver damage, even though 3-oxo-delta4 bile acids constituted more than 70% of total urinary bile acids. However, the patient may possibly have had an inherited 5beta-reductase deficiency.
authors.affiliation: Department of Paediatrics and Child Health, Kurume University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: K H
authors.initials: KH
authors.lastname: Kondo
authors.forename: K I
authors.initials: KI
authors.lastname: Okuda
authors.forename: S
authors.initials: S
authors.lastname: Higashi
authors.forename: M
authors.initials: M
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Kurosawa
authors.forename: M
authors.initials: M
authors.lastname: Tohma
authors.forename: T
authors.initials: T
authors.lastname: Inoue
authors.forename: A
authors.initials: A
authors.lastname: Nishiyori
authors.forename: M
authors.initials: M
authors.lastname: Yoshino
authors.forename: H
authors.initials: H
authors.lastname: Kato
authors.forename: T
authors.initials: T
authors.lastname: Setoguchi
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D001647:Bile Acids and Salts / Q000652:urine; D001706:Biopsy; D002779:Cholestasis / Q000150:complications; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D007564:Japan; D008099:Liver / Q000473:pathology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology; D010088:Oxidoreductases / Q000172:deficiency*; D014443:Tyrosine / Q000097:blood
chemical_list: D001647:Bile Acids and Salts; D014443:Tyrosine; D010088:Oxidoreductases; C021936:3-oxo-5 beta-steroid delta 4-dehydrogenase