Bile Acid Synthesis Defects

Also known as: BASD, bile acid synthesis disorders, bile acid synthesis and metabolism defects.

What are bile acid synthesis defects?

Bile acids are chemicals in the liver that play several important roles in the body, including helping with the breakdown of fat and removing cholesterol from the body. When the body has trouble producing bile acid, this is known as a bile acid synthesis defect.

What causes bile acid synthesis defects?

Bile acid synthesis defects are genetic disorders. They can be passed along from parents to their children.


What are the symptoms of bile acid synthesis defects?

Symptoms of bile acid synthesis defects can include jaundice (yellowing of the skin and eyes), failure to thrive, itching and diarrhea. Over time, the difficulty with nutrient absorption can lead to problems with the skin, eyes and bones, as well as coordination and developmental delays rarely, this can lead to liver dysfunction and liver failure.

What are bile acid synthesis defect care options?

Replacing the action of the bile acid in the body is a therapy that has shown some promise for bile acid synthesis defects. Other treatments are focused on the symptoms caused by the disorders.   

Reviewed by: John M. Peters, DO

This page was last updated on: December 28, 2021 02:30 PM