ArticleOrphanet journal of rare diseases2018
Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Autosomal recessiveMolecular genetics and metabolism reports · 2026Article
- Case Report: Primary bile acid synthesis defect: first cases series from Tunisia.Frontiers in pediatrics · 2026Article
- The history and future of bile acid therapies.Journal of hepatology · 2025Article
- Identification of metabolic driver genes and targeted drug screening for lung adenocarcinoma metastasis at the single-cell resolution.Translational cancer research · 2025Article
- Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.International journal of molecular sciences · 2025Review
- The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.Clinical medicine insights. Pediatrics · 2025Article
- Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders.Molecular genetics and metabolism reports · 2024Article
- Bile Acid Metabolism Mediates Cholesterol Homeostasis and Promotes Tumorigenesis in Clear Cell Renal Cell Carcinoma.Cancer research · 2024Article
- ∆Orphanet journal of rare diseases · 2023Article
- Treatment of Cholestasis in Infants and Young Children.Current gastroenterology reports · 2023Review
- Healthy Patients WithJPGN reports · 2023Article
- Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects.Pharmaceutics · 2023Article
- Newer variants of progressive familial intrahepatic cholestasis.World journal of hepatology · 2021Review
- Special FX: Harnessing the Farnesoid-X-Receptor to Control Bile Acid Synthesis.Digestive diseases and sciences · 2021Article
- Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.Digestive diseases and sciences · 2021Article
- Genetic spectrum and clinical characteristics of 3β-hydroxy-ΔOrphanet journal of rare diseases · 2021Article
- Pediatric Cholestasis: Epidemiology, Genetics, Diagnosis, and Current Management.Clinical liver disease · 2020Review
- Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.Frontiers in pediatrics · 2020Article
- Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis.Frontiers in pediatrics · 2020Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOral cholic acid (CA) replacement has been shown to be an effective therapy in children with primary bile acid synthesis defects, which are rare and severe genetic liver diseases. To date there has been no report of the effects of this therapy in children reaching adulthood. The aim of the study was to evaluate the long-term effectiveness and safety of CA therapy.
methodsFifteen patients with either 3β-hydroxy-Δ
resultsThe median age at last follow-up and the median time of follow-up with treatment were 24.3 years (range: 15.3-37.2) and 21.4 years (range: 14.6-24.1), respectively. At last evaluation, physical examination findings and blood laboratory test results were normal in all patients. Liver sonograms were normal in most patients. Mean daily CA dose was 6.9 mg/kg of body weight. Mass spectrometry analysis of urine showed that excretion of the atypical metabolites remained low or traces in amount with CA therapy. Liver fibrosis scored in liver biopsies or assessed by elastography in 14 patients, after 10 to 24 years with CA therapy, showed a marked improvement with disappearance of cirrhosis (median score < F1; range: F0-F2). CA was well tolerated in all patients, including five women having 10 uneventful pregnancies during treatment.
conclusionsOral CA therapy is a safe and effective long-term treatment of 3β-HSD and Δ
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