Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Peter Tang + 533 word(s) 533 2020-12-15 07:20:18

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Tang, P. CBAS1. Encyclopedia. Available online: https://encyclopedia.pub/entry/6040 (accessed on 20 September 2026).
Tang P. CBAS1. Encyclopedia. Available at: https://encyclopedia.pub/entry/6040. Accessed September 20, 2026.
Tang, Peter. "CBAS1" Encyclopedia, https://encyclopedia.pub/entry/6040 (accessed September 20, 2026).
Tang, P. (2021, January 04). CBAS1. In Encyclopedia. https://encyclopedia.pub/entry/6040
Tang, Peter. "CBAS1." Encyclopedia. Web. 04 January, 2021.
CBAS1
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1

Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.

genetic conditions

References

  1. Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD,Russell DW. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductasedeficiency in 16 patients with loss of bile acid synthesis and liver disease. JClin Endocrinol Metab. 2003 Apr;88(4):1833-41.
  2. Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011Jun;34(3):593-604. doi: 10.1007/s10545-010-9259-3.
  3. Subramaniam P, Clayton PT, Portmann BC, Mieli-Vergani G, Hadzić N. Variableclinical spectrum of the most common inborn error of bile acidmetabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. J PediatrGastroenterol Nutr. 2010 Jan;50(1):61-6. doi: 10.1097/MPG.0b013e3181b47b34.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
View Times: 964
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 04 Jan 2021
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback