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Congenital bile acid synthesis defect

MedGen UID:
1826069
•Concept ID:
C5680095
•
Disease or Syndrome
Synonyms: BASD; bile acid synthesis defect, congenital; CBA; congenital bile acid synthesis defect
 
Monarch Initiative: MONDO:0018841
OMIM® Phenotypic series: PS607765
Orphanet: ORPHA485631

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital bile acid synthesis defect

Professional guidelines

PubMed

The value of lipid metabolites 9,10-DOA and 11,12-EET in prenatal diagnosis of fetal heart defects.
Fang Y, Zhang Z, Zhao Y, Sun G, Peng M, Liu C, Yi G, Zhao K, Yang H
Clin Chim Acta 2023 Apr 1;544:117330. Epub 2023 Apr 8 doi: 10.1016/j.cca.2023.117330. PMID: 37037297
Essential fatty acid deficiency in congenital biliary atresia: successful treatment to reverse deficiency.
Miyano T, Yamashiro Y, Shimizu T, Arai T, Suruga T, Hayasawa H
J Pediatr Surg 1986 Mar;21(3):277-81. doi: 10.1016/s0022-3468(86)80854-5. PMID: 3083086
Chronic cholangitides: aetiology, diagnosis, and treatment.
Sherlock S
Br Med J 1968 Aug 31;3(5617):515-21. doi: 10.1136/bmj.3.5617.515. PMID: 4971054Free PMC Article

Recent clinical studies

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
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

Therapy

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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