Cholic Acid Medical Uses

Cholic acid is a standard treatment for children and adults with peroxisomal disorders (Zewelleger Syndrome) and bile acid synthesis disorders. Regulatory approval for cholic acid in the EU was specifically granted for single enzyme defects that include: sterol 27-hydroxylase deficiency (presenting as cerebrotendinous xanthomatosis), 2- (or alpha-) methylacyl-CoA racemase (AMACR) deficiency, and cholesterol 7 alpha-hydroxylase (CYP7A1) deficiency.

Bile Acid Synthesis Disorders

Bile acid synthesis disorders are a collective group of rare metabolic conditions characterized by defects in the creation or synthesis of bile acids. Bile acids are chemical compounds in the liver that have numerous critical functions that promote the flow and excretion of bile. Bile acids are typically created from cholesterol. Since bile acid synthesis acts as the primary pathway that breaks down and removes cholesterol from the body (cholesterol degradation), abnormal bile function can result in the accumulation of abnormal bile acids and other substances that otherwise would be broken down inside the body. 

The accumulation of abnormal bile acids and additional substances can damage organ systems. The primary symptom of most cases of bile acid synthesis disorders is the suppression or interruption of bile flow and fat-soluble vitamin malabsorption. Symptoms and signs of bile acid synthesis disorders can be present at birth or during the first months of life. If left untreated, more severe forms of these disorders can eventually progress to severe complications that include liver scarring (cirrhosis) and liver failure.

Cholic acid is used to treat this condition by replacing the missing bile acids through bile acid replacement therapy.

Peroxisomal Disorders

Peroxisomal disorders are a class of conditions caused by peroxisome function defects. These conditions are caused primarily by inadequacies in single enzymes critical for peroxisome function, or a defect with peroxins – proteins encoded by PEX genes essential for normal peroxisome assembly and biogenesis.

Peroxisomes are membrane-bound organelles found in the cytoplasm of almost all eukaryotic cells. They have key roles in the conversion of reactive oxygen species and lipid metabolism, and are involved in the catabolism of branched chain fatty acids, very long chain fatty acids, bile acid intermediates (in the liver), polyamines, D-amino acids, the reduction of reactive oxygen species, and the biosynthesis of plasmalogens. In addition, peroxisomes, specifically ether phospholipids, are critical for the optimal function of mammalian brains and lungs.