Increasing Public Awareness of
Bile Acid Deficiency Diseases
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Rockville, Maryland 20852-4455
 
 

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Information About Bile Acid Synthesis Deficiency Diseases 

At the Council for Bile Acid Deficiency Diseases, located in Rockville, Maryland, USA,  we are dedicated to providing information, and being an advocate for further research into these diseases for our members.

About Bile Acid Synthesis Deficiency  Diseases
Bile Acid Deficiency Diseases are caused by inborn genetic errors from one of 17 enzymes in the bile acid synthetic pathway. These diseases can produce abnormal bile acid molecules which can cause jaundice of the eye and skin, vitamin deficiencies, liver bleeding, and poor liver function. Medical records indicate that roughly 80,000 people suffer from some type of Bile Acid Deficiency Disease

Treating Bile Acid  Synthesis Deficiency Diseases
While there is no cure for these diseases, there is currently an investigational study exploring the safety and efficacy of an oral bile acid.  It is recommended that treatment with this investigational new drug begin as early as possible, since untreated infants will develop serious liver disease/ liver failure.

Additionally, the Council provides families with a forum to share information about the ongoing research, medical institutions doing diagnostic and clinical studies and support mechanisms.
 
Promoting Scientific Research
The Council promotes scientific research into Bile Acid Deficiency Diseases. We hope to raise support for research conducted at medical centers that further define new diagnostic methods and explore new investigational treatments.  The Council also has a medical advisory committee that advises it on research and provides information which it will make available to families who have family members with the disease.

Council for Bile Acid Deficiency Diseases, scientific research, develop a treatment, cholic acid deficiency research, bile salts
Bile Acid Deficiency Diseases Leads to Progressive Liver Failure
Progressive liver failure may occur in Bile Acid Deficiency Diseases characterized by the destruction and regeneration of the liver parenchyma cells, which can lead to fibrosis, cirrhosis, and other serious conditions such as bleeding , growth failure, vitamin deficiencies. This disorder causes rapid clinical deterioration of the liver tissue, which can ultimately lead to complete liver failure if left untreated. In extreme cases, liver transplant may be necessary.
Contact us to learn more about the dangers of progressive liver failure.