Bile acid synthesis disorders are a group of rare metabolic disorders identified by defects in the production of bile acids. Bile acids are chemical substances found in the liver that have several functions in the body including promoting the flow and excretion of bile and aiding in the digestive absorption of fat-soluble and fat vitamins. Bile acids are formed from cholesterol and, as a result, bile acid synthesis works as the main path in damaging down and getting rid of cholesterol from the body. The failure to generate normal or functional bile acids causes the accumulation of abnormal bile acids and other substances that normally would be broken down within the body. Disorders of bile acid synthesis can be extensively classified as primary or secondary. Primary BASDs involve hereditary deficiencies in enzymes required for causing chemical reactions needed to synthesize the two primary bile acids called cholic acid and chenodeoxycholic acid.
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