ReviewJournal of inherited metabolic disease2011
Disorders of bile acid synthesis.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 161 citations in OpenAlex.
- Clinical Practice Guidelines for Liver Transplantation in Saudi Arabia.Saudi medical journal · 2021Guideline
- Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.Journal of inherited metabolic disease · 2026Article
- Monitoring Atypical Metabolite Biomarkers in Patients with Bile Acid Synthesis Disorders by a Novel Targeted Tandem Mass Spectrometry Assay.Metabolites · 2026Article
- Case Report: Primary bile acid synthesis defect: first cases series from Tunisia.Frontiers in pediatrics · 2026Article
- Integrative transcriptomic and metabolomic analysis explores mechanisms by which Astragalus membranaceus and Salvia miltiorrhiza ameliorates hypertensive renal damage.Scientific reports · 2025Article
- Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.Journal of inherited metabolic disease · 2025Article
- The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.Clinical medicine insights. Pediatrics · 2025Article
- Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report.JPGN reports · 2024Article
- Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape and Future Developments.Cells · 2024Review
- Bile Acids as Emerging Players at the Intersection of Steatotic Liver Disease and Cardiovascular Diseases.Biomolecules · 2024Review
- Integrated Transcriptome and Metabolomics to Reveal the Mechanism of Adipose Mesenchymal Stem Cells in Treating Liver Fibrosis.International journal of molecular sciences · 2023Article
- Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects.Pharmaceutics · 2023Article
- Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood.BMJ case reports · 2023Article
- Polygoni Multiflori Radix interferes with bile acid metabolism homeostasis by inhibitingFrontiers in pharmacology · 2023Article
- Biliary atresia and congenital disorders of the extrahepatic bile ducts.World journal of gastrointestinal pharmacology and therapeutics · 2022Review
- Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report.Journal of medical case reports · 2022Article
- Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.Journal of medical case reports · 2022Article
- Cholesterol metabolism: from lipidomics to immunology.Journal of lipid research · 2022Review
- Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann-Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry.Mass spectrometry (Tokyo, Japan) · 2022Review
- Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.Digestive diseases and sciences · 2021Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of bile acid synthesis can produce life-threatening cholestatic liver disease (which usually presents in infancy) and progressive neurological disease presenting later in childhood or in adult life. Both types of disease can often be treated very effectively with bile acid replacement therapy and it is therefore important to diagnose these disorders as early as possible. The cholestatic disease in infancy is characterised by conjugated hyperbilirubinaemia with raised transaminases but normal γ-glutamyl transpeptidase and a biopsy showing a giant cell hepatitis. There is usually evidence of fat-soluble vitamin malabsorption. The neurological presentation often includes signs of upper motor neurone damage (spastic paraparesis). The most useful screening test for many of these disorders is analysis of urinary cholanoids (bile acids and bile alcohols); this is usually now achieved by electrospray ionisation tandem mass spectrometry. The disorders that are discussed in this review are: 3β-hydroxysteroid-Δ5-C27-steroid dehydrogenase deficiency, Δ4-3-oxosteroid 5β-reductase deficiency, sterol 27-hydroxylase deficiency (cerberotendinous xanthomatosis, CTX), oxysterol 7α-hydroxylase deficiency (including one form of hereditary spastic paraparesis) and the amidation defects, bile acid-CoA: aminoacid N-acyltransferase (BAAT) deficiency and bile acid-CoA ligase deficiency. The disorders of peroxisome biogenesis and peroxisomal β-oxidation that affect bile acid synthesis will be covered in the review by Ferdinandusse et al.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.