Cholic acid is indicated for the treatment of inborn errors of primary bile acid synthesis due to deficiencies in either of two endogenous enzymes, which lead to cholestatic hepatitis and progressive liver failure. Replacing cholic acid improves physiological function and metabolic regulation; and hence also improves liver function tests, histology, and enables infants to achieve a normal weight for age.

Dosage is adjusted to individual response up to a maximum of 500mg per day. The oral capsules should not be chewed, but may be opened and the content added to infant feeds. Reported adverse effects are not serious, and do not interfere with therapy. Pruritus and/or diarrhoea may indicate overdose, and abate with dose reduction.

Cholic acid has been designated as an orphan drug by the Therapeutic Goods Administration, while the hard won marketing approval of the European Medicines Authority has been described as a “David and Goliath” story due to an extended legal dispute over the practicality and ethics of undergoing a comprehensive clinical trial.

Due to the ultra-rarity of these enzyme deficiencies, information and supplies of Orphacol® and Cholbam® are sourced internationally, and any orders require submission of appropriate Special Access Scheme documentation.

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