caa a22 4500 469044004 CHVBK 20180323132818.0 cr unu---uuuuu 170328e19920101xx s 000 0 eng 10.1007/BF01800342 doi (NATIONALLICENCE)springer-10.1007/BF01800342 3 β -hydroxy-Δ5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology [Elektronische Daten] [S. Horslen, A. Lawson, M. Malone, P. Clayton] Summary: The second step in the pathway for synthesis of bile acids from cholesterol is catalysed by the enzyme 3β-hydroxy-Δ5-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. SSIEM and Kluwer Academic Publishers, 1992 Horslen S. Hospital for Sick Children, Great Ormond Street and Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Lawson A. Section of Clinical Mass Spectrometry, MRC Clinical Research Centre, Harrow, UK aut Malone M. Hospital for Sick Children, Great Ormond Street and Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut Clayton P. Section of Clinical Mass Spectrometry, MRC Clinical Research Centre, Harrow, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 38-46 0141-8955 15:1<38 1992 15 10545 https://doi.org/10.1007/BF01800342 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800342 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Horslen S. Hospital for Sick Children, Great Ormond Street and Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Lawson A. Section of Clinical Mass Spectrometry, MRC Clinical Research Centre, Harrow, UK aut NATIONALLICENCE 700 1- Malone M. Hospital for Sick Children, Great Ormond Street and Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK aut NATIONALLICENCE 700 1- Clayton P. Section of Clinical Mass Spectrometry, MRC Clinical Research Centre, Harrow, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 38-46 0141-8955 15:1<38 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer