title: 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology.
abstract: The second step in the pathway for synthesis of bile acids from cholesterol is catalysed by the enzyme 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase. Deficiency of this enzyme has been reported to produce cholestatic liver disease with progressive cirrhosis. Treatment with chenodeoxycholic acid led to clinical and biochemical improvement in one patient. We report a further child with this disorder who presented with prolonged neonatal jaundice followed by symptoms of malabsorption of fat-soluble vitamins. Bile acid replacement therapy resulted in clinical and biochemical improvement; it was also possible to demonstrate improvement in the histological appearance of the liver biopsy 4 months after commencing treatment.
authors.affiliation: Hospital for Sick Children, London, UK.
authors.forename: S P
authors.initials: SP
authors.lastname: Horslen
authors.forename: A M
authors.initials: AM
authors.lastname: Lawson
authors.forename: M
authors.initials: M
authors.lastname: Malone
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D001647:Bile Acids and Salts / Q000652:urine; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000188:drug therapy / Q000201:enzymology / Q000473:pathology; D008099:Liver / Q000187:drug effects* / Q000473:pathology; D008297:Male
chemical_list: D001647:Bile Acids and Salts; D002635:Chenodeoxycholic Acid; D015096:3-Hydroxysteroid Dehydrogenases; C066485:3 beta-hydroxy-delta 5-C(27)-steroid dehydrogenase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase