What are bile acid defects (inborn errors of bile acid metabolism)?
Bile acids are chemicals made by the liver and put into bile, the yellow fluid that flows from the liver to the intestines. Bile acids are the body’s natural detergents that help the intestine break down and use the fat and vitamins from the foods we eat. Bile acids are made from cholesterol. There are many steps in the process of making bile acids, and each step needs a certain “enzyme.” An enzyme is a protein that causes something to happen in the body. If each step of the process is not completed correctly, the bile acids are not made correctly. The result is that the person’s body cannot make bile normally and the intestine cannot absorb and use fats and vitamins correctly. Some people are born with genes inherited from their parents that do not make normal enzymes. This is called a birth defect or an “inborn error”, which means there is problem with a normal body function that has been there since birth. Most birth defects happen because a patient has inherited defective genes fro
