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