Bile acid synthesis disorders

Metabolic disorders

Summary

Bile acid synthesis disorders (BASDs) are rare metabolic disorders characterized by defects in the synthesis of bile acids, which are crucial for cholesterol breakdown and the absorption of fats and fat-soluble vitamins. These disorders can lead to the accumulation of abnormal bile acids and intermediary metabolites, causing damage to various organs, especially the liver. BASDS can cause cholestatic liver disease, interrupting or suppressing the flow of bile from the liver, as well neurological disease that will progressively worsen from childhood and/or adult life.

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