| v> | | | | In all of these defects, a person must inherit two |
| Bile acids are chemicals made by the liver and put | | | | changed genes, one from each parent. Changed |
| into bile, the yellow fluid that flows from the liver | | | | genes that are inherited from both parents are |
| to the intestines. | | | | called "autosomal recessive.". There are two main |
| Bile acids are the body's natural detergents that | | | | methods the liver gets hurt in bile acid defects. |
| help the intestine lose it and use the fat and | | | | The first happens when the liver is unable to |
| vitamins from the foods we eat. Bile acids are | | | | make "normal" bile acids. Normal bile acids help to |
| made from cholesterol. There are many steps in | | | | move bile through and out of the liver. This helps |
| the process of making bile acids, and each step | | | | remove "waste" substances that can hurt the |
| needs a certain "enzyme." An enzyme is a protein | | | | liver. The second way the liver gets hurt is by the |
| that causes something to happen in the body. | | | | chemicals that form from the abnormal bile acids. |
| This is called a birth defect or an "inborn error", | | | | Symptoms of bile acid defects include jaundice |
| which means there is problem with a normal body | | | | (eyes and skin turning yellow), poor growth , liver |
| function that has been there since birth. | | | | or spleen enlargement. |
| Most birth defects chance because a patient has | | | | Other symptoms of bleeding rickets and abnormal |
| inherited defective genes from his or her parents. | | | | blood tests to check how well the liver is working. |
| Bile acid defects cause liver disease. They can also | | | | The main goal in treating bile acid faults is to get |
| be part of other diseases, like diseases of the | | | | the liver to work correctly again. There are special |
| brain and nervous system. Bile acid defects are | | | | infant formulas that doctors can recommend to |
| inherited, which means they are caused by | | | | help the patient get enough nutrients. These |
| changes in genes that are passed on from | | | | formulas have fats and vitamins that are easier |
| parents to their children. Genes are codes in the | | | | for the body to absorb. Some patients also need |
| cells of our body that control how proteins | | | | to take extra vitamins. Most patients who are |
| (enzymes) are made. There are a number of | | | | treated with man-made bile acids end up with |
| genes that are needed for all of the steps of the | | | | normal blood tests of liver function and the liver is |
| process of making bile acids. Changes in genes | | | | healthy. A liver transplant is a surgery which |
| can cause mistakes to happen at any one of | | | | removes the sick liver and replaces it with a |
| these steps. | | | | healthy one from another person. |