{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T16:21:59Z","timestamp":1789834919953,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective:<\/jats:title><jats:p>We studied the clinical features of children with 3\u03b2\u2010hydroxy\u2010\u0394<jats:sup>5<\/jats:sup>\u2010C<jats:sub>27<\/jats:sub>\u2010steroid dehydrogenase (3\u03b2\u2010HSDH) deficiency presenting to King's College and Great Ormond Street hospitals between 1989 and 2005. The diagnosis was made biochemically by detection of sulphated dihydroxycholenoic acids and trihydroxycholenoic acids in urine by fast atom bombardment mass spectrometry or electrospray ionisation tandem mass spectrophotometry and a plasma bile acid profile showing absent or low cholic and chenodeoxycholic acid levels and high concentrations of 3\u03b2\u20107\u03b1\u2010dihydroxy\u20105\u2010cholenoic acid and 3\u03b2\u20107\u03b1\u201012\u03b1\u2010trihydroxy\u20105\u2010cholenoic acid.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Eighteen children (12 male) with 3\u03b2\u2010HSDH deficiency were identified and diagnosed at a median age of 1.35 years (range 8 weeks\u201311 years). The presenting features included neonatal cholestasis (n = 11), rickets (n = 8, 1 of whom also had hypocalcaemic tetany, seizures, and normal liver biochemical markers), hepatomegaly (n = 7), pruritus (n = 3), and steatorrhoea and failure to thrive (n = 3). Ten children had low serum 25\u2010OH vitamin D levels, of whom 8 also had low vitamin E and 6 had low vitamin A serum levels. Liver histology showed giant cell change and hepatocyte disarray in all with added features of cholestasis in 11, bridging fibrosis in 6, micronodular cirrhosis in 1, fatty change in 1, and active lobular and portal inflammation in 1. Five patients were treated with cholic acid and chenodeoxycholic acid (7 mg \u00b7 kg<jats:sup>\u22121<\/jats:sup> \u00b7 day<jats:sup>\u22121<\/jats:sup> of each), 7 with chenodeoxycholic acid only (7\u201318 mg \u00b7 kg<jats:sup>\u22121<\/jats:sup> \u00b7 day<jats:sup>\u22121<\/jats:sup>), and 1 with cholic acid (8 mg \u00b7 kg<jats:sup>\u22121<\/jats:sup> \u00b7 day<jats:sup>\u22121<\/jats:sup>) only. Repeated liver biopsies performed in 4 patients 6 months after starting replacement therapy showed improved histological changes. Three children died untreated before 5 years of age. After a median follow\u2010up of 5.5 years (range 1\u201317 years) 12 out of 13 treated children have no clinical signs of liver disease or of fat\u2010soluble vitamin deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>3\u03b2\u2010HSDH deficiency is a rare inborn error of metabolism with diverse clinical features. Early replacement treatment leads to clinical and biochemical control and prevents chronic liver and bone disease, at least in the medium term.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e3181b47b34","type":"journal-article","created":{"date-parts":[[2009,12,17]],"date-time":"2009-12-17T15:25:16Z","timestamp":1261063516000},"page":"61-66","source":"Crossref","is-referenced-by-count":64,"title":["Variable Clinical Spectrum of the Most Common Inborn Error of Bile Acid Metabolism\u20143\u03b2\u2010hydroxy\u2010\u0394<sup>5<\/sup>\u2010C<sub>27<\/sub>\u2010steroid Dehydrogenase Deficiency"],"prefix":"10.1002","volume":"50","author":[{"given":"Pushpa","family":"Subramaniam","sequence":"first","affiliation":[{"name":"Paediatric Liver Service UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter T","family":"Clayton","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Unit Great Ormond Street Hospital for Children and UCL Institute of Child Health UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard C","family":"Portmann","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies King's College London School of Medicine at King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgina","family":"Mieli\u2010Vergani","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies King's College London School of Medicine at King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nedim","family":"Had\u017ei\u0107","sequence":"additional","affiliation":[{"name":"Institute of Liver Studies King's College London School of Medicine at King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8553(05)70048-0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(05)70144-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-1201-8"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-28785-8_34"},{"key":"e_1_2_6_6_1","first-page":"341","volume-title":"A Physician's Guide to the Treatment of Inherited Metabolic Disease","author":"Clayton PT","year":"2006"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985073"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpgasthep1179"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31815a9911"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.72.121801.161712"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83280-9"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021580"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(72)90209-7"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108127"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02343226"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.1987.tb01131.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112915"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113837"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1997.00039.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.10.1121"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)42035-8"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2007.01814.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.5.463"}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/MPG.0b013e3181b47b34","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T13:39:38Z","timestamp":1705585178000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/MPG.0b013e3181b47b34"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1097\/MPG.0b013e3181b47b34"],"URL":"https:\/\/doi.org\/10.1097\/mpg.0b013e3181b47b34","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}