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Bile Acid Synthesis Defect

MedGen UID:
417683
•Concept ID:
C2827432
•
Disease or Syndrome

Definition

A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBile Acid Synthesis Defect

Professional guidelines

PubMed

Differential diagnosis in patients with suspected bile acid synthesis defects.
Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG
World J Gastroenterol 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067. PMID: 22416181Free PMC Article

Recent clinical studies

Etiology

Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.
Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M
Pediatr Transplant 2023 Dec;27(8):e14600. Epub 2023 Sep 7 doi: 10.1111/petr.14600. PMID: 37675889
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
Wei CS, Becher N, Friis JB, Ott P, Vogel I, Grønbæk H
World J Gastroenterol 2020 Feb 7;26(5):550-561. doi: 10.3748/wjg.v26.i5.550. PMID: 32089630Free PMC Article
Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism.
Taweevisit M, Thorner PS
Pediatr Dev Pathol 2019 Jan-Feb;22(1):22-29. Epub 2018 Jun 9 doi: 10.1177/1093526618780776. PMID: 29888625
Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U
J Pediatr Gastroenterol Nutr 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044. PMID: 26628447

Diagnosis

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Pham AN, Thi KB, Thi MN, Ngo DN, Naritaka N, Nittono H, Hayashi H, Dao TT, Nguyen KT, Nguyen HN, Giang H, Tang HS, Nguyen TT, Truong DK, Tran MD
Medicine (Baltimore) 2022 Jun 24;101(25):e29476. doi: 10.1097/MD.0000000000029476. PMID: 35758383Free PMC Article
Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism.
Taweevisit M, Thorner PS
Pediatr Dev Pathol 2019 Jan-Feb;22(1):22-29. Epub 2018 Jun 9 doi: 10.1177/1093526618780776. PMID: 29888625
Fat malabsorption due to bile acid synthesis defect.
Rinawi F, Iancu TC, Hartman C, Cohen H, Yarden-Bilavsky H, Lev MR, Shamir R
Isr Med Assoc J 2015 Mar;17(3):190-2. PMID: 25946774
Differential diagnosis in patients with suspected bile acid synthesis defects.
Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG
World J Gastroenterol 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067. PMID: 22416181Free PMC Article
Acute liver failure in children.
Devictor D, Tissieres P, Afanetti M, Debray D
Clin Res Hepatol Gastroenterol 2011 Jun;35(6-7):430-7. Epub 2011 Apr 30 doi: 10.1016/j.clinre.2011.03.005. PMID: 21531191

Therapy

Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH
World J Gastroenterol 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086. PMID: 30254413Free PMC Article
Fat malabsorption due to bile acid synthesis defect.
Rinawi F, Iancu TC, Hartman C, Cohen H, Yarden-Bilavsky H, Lev MR, Shamir R
Isr Med Assoc J 2015 Mar;17(3):190-2. PMID: 25946774
Titration of bile acid supplements in 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase/isomerase deficiency.
Riello L, D'Antiga L, Guido M, Alaggio R, Giordano G, Zancan L
J Pediatr Gastroenterol Nutr 2010 Jun;50(6):655-60. doi: 10.1097/MPG.0b013e3181b97bd2. PMID: 20400917

Prognosis

Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P
J Gastroenterol 2018 Aug;53(8):945-958. Epub 2017 Dec 13 doi: 10.1007/s00535-017-1423-1. PMID: 29238877

Clinical prediction guides

Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.
Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M
Pediatr Transplant 2023 Dec;27(8):e14600. Epub 2023 Sep 7 doi: 10.1111/petr.14600. PMID: 37675889
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P
J Gastroenterol 2018 Aug;53(8):945-958. Epub 2017 Dec 13 doi: 10.1007/s00535-017-1423-1. PMID: 29238877
Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U
J Pediatr Gastroenterol Nutr 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044. PMID: 26628447

Recent systematic reviews

Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article

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