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Up to: Inborn disorder of amino acid and other organic acid metabolism · Disorder of organic acid metabolism · Sterol metabolism disorder
Inborn disorder of bile acid synthesis
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
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Cerebrotendinous xanthomatosis 6 trials
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Hypercholanemia, familial 0 trials Sub-types →