| A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. | |
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MedLine Citation:
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PMID: 7915305 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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There have been a few reports of infants with severe neonatal cholestasis related to a defect in primary bile acid synthesis. To assess the importance of such deficiency among children with progressive intrahepatic cholestasis (Byler disease), screening for inborn errors in bile acid synthesis was performed by fast atom bombardment ionization-mass spectrometry of urine samples from 30 affected children. Bile acid analysis revealed a specific fast atom bombardment ionization-mass spectrometry profile for 3 beta-hydroxy-C27 steroid dehydrogenase/isomerase deficiency in five children who had jaundice, hepatosplenomegaly, and fatty stools beginning at ages ranging from 4 to 46 months. None of them had pruritus. Liver function tests showed persistently normal serum gamma-glutamyltransferase activity, low serum cholesterol and vitamin E levels, normal serum bile acid concentrations despite raised serum bilirubin levels, and decreased prothrombin time and clotting factor V. In four of the cases a similar disease was observed in siblings. Liver function returned to normal after oral ursodeoxycholic acid therapy. We conclude that 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency should be considered when idiopathic cholestatic liver disease with clinical features akin to Byler disease is characterized by the association of normal serum gamma-glutamyltransferase activity, normal serum bile acid concentration, absence of pruritus, and a return to normal liver function during ursodeoxycholic acid therapy. Early identification of these children is essential because they benefit from bile acid therapy and might thus avoid the need for liver transplantation. |
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Authors:
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E Jacquemin; K D Setchell; N C O'Connell; A Estrada; G Maggiore; J Schmitz; M Hadchouel; O Bernard |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Journal of pediatrics Volume: 125 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 1994 Sep |
Date Detail:
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Created Date: 1994-09-29 Completed Date: 1994-09-29 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 379-84 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, Hôpital de Bicêtre, Le Kremlin Bicêtre, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alanine Transaminase
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blood Bile Acids and Salts / blood, urine Bilirubin / blood Child Child, Preschool Cholestasis, Intrahepatic / blood, drug therapy, etiology*, pathology Cholesterol / blood Follow-Up Studies Hepatitis / pathology Humans Infant Liver / physiopathology Liver Cirrhosis / pathology Multienzyme Complexes / deficiency* Progesterone Reductase / deficiency* Retrospective Studies Steroid Isomerases / deficiency* Ursodeoxycholic Acid / therapeutic use Vitamin E / blood gamma-Glutamyltransferase / blood |
| Chemical | |
Reg. No./Substance:
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0/3 beta-hydroxysteroid oxidoreductase-delta(5) 3-ketosteroid isomerase; 0/Bile Acids and Salts; 0/Multienzyme Complexes; 128-13-2/Ursodeoxycholic Acid; 1406-18-4/Vitamin E; 57-88-5/Cholesterol; 635-65-4/Bilirubin; EC 1.1.1.145/Progesterone Reductase; EC 2.3.2.2/gamma-Glutamyltransferase; EC 2.6.1.2/Alanine Transaminase; EC 5.3.3.-/Steroid Isomerases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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