4 things to know about Bile Acid Synthesis Disorder (BASD)
BASD or Bile Acid Synthesis Disorder is a rare metabolic disorder that results from defects in the production of bile acids in the body. Bile acids are essential chemical compounds secreted in the liver. These are required for the absorption of fat and fat-soluble vitamins in the intestines. Bile acid synthesis is a process that involves the breakdown and elimination of cholesterol in the body. Bile acid synthesis disorder results in the accumulation of excess bile acids, which lead to a lot of health complications, including organ failure. Read on to know more about BASD. What causes Bile Acid Synthesis Disorder (BASD)? Genetic mutations cause Bile Acid Synthesis Disorder (BASD). The mutations cause improper synthesis of cholic acid and chenodeoxycholic acid, which are two primary bile acids. These acids are synthesized by the liver. This process involves complex chemical reactions of 27 enzymatic steps inside hepatocytes, which are special liver cells. A specialized protein known as the enzyme is required at each step of the bile acid synthesis. This specific enzyme is produced by a gene associated with a specific bile acid disorder. BASD occurs when there is a mutation of a specific gene that is responsible for decoding a bile acid enzyme.
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