Bile Acid Synthesis Defect, Congenital, 1

Common Name(s)

Bile Acid Synthesis Defect, Congenital, 1

Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by {2:Cheng et al., 2003}). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 ({235555}), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; {604741}) on chromosome 7q32; CBAS3 ({613812}), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; {603711}) on chromosome 8q21; and CBAS4 ({214950}), caused by mutation in the AMACR gene ({604489}) on chromosome 5. See also progressive familial intrahepatic cholestasis (PFIC1; {211600}), which has a similar phenotype.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bile Acid Synthesis Defect, Congenital, 1" for support, advocacy or research.

Logo
Council For Bile Acid Deficiency Diseases

The Council is a voluntary association of individuals, patients, healthcare professionals, and commercial entities interested in spreading the word about Bile Acid Deficiency Diseases. The Council was formed in order to increase public awareness of Bile Acid Deficiency Diseases through educational materials, and public forums, and to facilitate access to diagnostic methods and new treatments. It is our intent to have the Council develop a public forum to discuss these diseases and provide for better understanding of these diseases.

Last Updated: 20 Jul 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bile Acid Synthesis Defect, Congenital, 1" for support, advocacy or research.

Logo
Council For Bile Acid Deficiency Diseases

The Council is a voluntary association of individuals, patients, healthcare professionals, and commercial entities interested in spreading the word about Bile Acid Deficiency Diseases. The Council was formed in order to increase public awareness of Bile Acid Deficiency Diseases through educational materials, and public forums, and to facilitate access to diagnostic methods and new treatments. It is our intent to have the Council develop a public forum to discuss these diseases and provide for better understanding of these diseases.

http://www.bileacid.org/

Last Updated: 20 Jul 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bile Acid Synthesis Defect, Congenital, 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bile Acid Synthesis Defect, Congenital, 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)
 

Status: Recruiting

Condition Summary: Liver Diseases; Alagille Syndrome; Alpha 1-Antitrypsin Deficiency

 

Last Updated: 15 Sep 2014

Go to URL