scholarly journals Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Emmanuel Gonzales ◽  
Lorenza Matarazzo ◽  
Stéphanie Franchi-Abella ◽  
Alain Dabadie ◽  
Joseph Cohen ◽  
...  
Keyword(s):  
Bile Acid ◽  
Cholic Acid ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Favorable Outcome ◽  
Life Saving ◽  
Primary Bile Acid

Oral Cholic Acid for Hereditary Defects of Primary Bile Acid Synthesis: A Safe and Effective Long-term Therapy

2009 ◽  
Vol 137 (4) ◽  
pp. 1310-1320.e3 ◽  
Author(s):  
Emmanuel Gonzales ◽  
Marie F. Gerhardt ◽  
Monique Fabre ◽  
Kenneth D.R. Setchell ◽  
Anne Davit–Spraul ◽  
...  
Keyword(s):  
Bile Acid ◽  
Cholic Acid ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Term Therapy ◽  
Long Term Therapy ◽  
Primary Bile Acid

scholarly journals Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

2017 ◽  
Vol 9 (3) ◽  
Author(s):  
Grazia Bossi ◽  
Giuseppe Giordano ◽  
Gaetana Anna Rispoli ◽  
Giuseppe Maggiore ◽  
Mauro Naturale ◽  
...  
Keyword(s):  
Bile Acid ◽  
Replacement Therapy ◽  
Cholic Acid ◽  
Novel Mutation ◽  
Failure To Thrive ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Ionization Mass ◽  
Fast Atom Bombardment Ionization ◽  
Atypical Clinical Presentation

We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β- hydroxy-Δ5-C27-steroid dehydrogenase (3β- HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). <em>HSDH3B7</em> gene analysis identified one mutation in intron 4, at nucleotide 432, G&gt;A substitution that has never been reported before.The replacement therapy with oral cholic acid started early after the diagnosis and is still ongoing. Three years later hepatomegaly is no longer evident, liver function is normal and the child is growing regularly. In our experience, clinical features of 3β-HSD deficiency can be very poor and even cholestasis can lack at diagnosis. Early replacement therapy with cholic acid is safe and leads to clinical and biochemical control of the disease.

scholarly journals Cholic acid mediates negative feedback regulation of bile acid synthesis in mice

2002 ◽  
Vol 110 (8) ◽  
pp. 1191-1200 ◽  
Author(s):  
Jia Li-Hawkins ◽  
Mats Gåfvels ◽  
Maria Olin ◽  
Erik G. Lund ◽  
Ulla Andersson ◽  
...  
Keyword(s):  
Bile Acid ◽  
Cholic Acid ◽  
Negative Feedback ◽  
Feedback Regulation ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Negative Feedback Regulation

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis

2017 ◽  
Vol 64 (6) ◽  
pp. 864-868 ◽  
Author(s):  
Jörg Jahnel ◽  
Evelyn Zöhrer ◽  
Björn Fischler ◽  
Lorenzo D’Antiga ◽  
Dominique Debray ◽  
...  
Keyword(s):  
Bile Acid ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Inborn Errors ◽  
Primary Bile Acid

scholarly journals Nuclear and cytosolic distribution of conjugated cholic acid and radiolabelled glycocholic acid in rat liver

1979 ◽  
Vol 178 (1) ◽  
pp. 71-78 ◽  
Author(s):  
R C Strange ◽  
G J Beckett ◽  
I W Percy-Robb
Keyword(s):  
Bile Acid ◽  
Bile Acids ◽  
Cholic Acid ◽  
Rat Liver ◽  
Superior Mesenteric Vein ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Acid Receptor ◽  
Glycocholic Acid ◽  
Bile Acid Receptor

1. Normally fed and cholestyramine-treated rats were injected through the superior mesenteric vein with different amounts of radiolabelled glycoholic acid and the appearance of radioactivity in bile was measured. 2. In normally fed rats radioactivity appeared in bile within 30 s of injection and reached a maximum after 2 1/2 min; in the cholestyramine-treated animals the appearance of radioactivity was slower and less of the injected material was excreted into bile. 3. At 10 min after injection, livers were removed and the amounts of radioactive glycoholic acid and endogenous cholic acid conjugates in nuclei and cytosol were determined; most of the bile acid was found in the cytosol, only small amounts being found in nuclei. 4. Nuclear preparations from both normally fed and cholestyramine-fed rats were extracted with KCl (0.4 M) in an attempt to identify a putative bile acid receptor, but no such receptor was found. 5. Regulation of bile acid synthesis does not involve nuclear binding of bile acids.

scholarly journals Tu1262 Obeticholic Acid, a Farnesoid X Receptor Agonist, Reduces Bile Acid Synthesis in Patients With Primary Bile Acid Diarrhea

2014 ◽  
Vol 146 (5) ◽  
pp. S-797 ◽  
Author(s):  
Claire Vassie ◽  
Jonathan D. Nolan ◽  
Ian M. Johnston ◽  
David Shapiro ◽  
Julian R. Walters
Keyword(s):  
Bile Acid ◽  
Receptor Agonist ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Farnesoid X Receptor ◽  
Obeticholic Acid ◽  
Primary Bile Acid

scholarly journals Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy

Medicine ◽  
2018 ◽  
Vol 97 (49) ◽  
pp. e13353 ◽  
Author(s):  
Teresa Płatek ◽  
Evelyn Orso ◽  
Barbara Zapała ◽  
Anna Polus ◽  
Beata Kieć-Wilk ◽  
...  
Keyword(s):  
Case Report ◽  
Bile Acid ◽  
Acid Synthesis ◽  
Bile Acid Synthesis ◽  
Primary Bile Acid
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