Sterol 27-hydroxylase deficiency, cerebrotendinous xanthomatosis (CTX)

Active Ingredient: Chenodeoxycholic acid

Indication for Chenodeoxycholic acid

Population group: only adults (18 - 65 years old)

Chenodeoxycholic acid is indicated for the treatment of inborn errors of primary bile acid synthesis due to sterol 27-hydroxylase deficiency (presenting as cerebrotendinous xanthomatosis (CTX)) in infants, children and adolescents aged 1 month to 18 years and adults.

For this indication, competent medicine agencies globally authorize below treatments:

750 mg in 3 divided doses daily

Route of admnistration

Oral

Defined daily dose

750 - 750 mg

Dosage regimen

From 250 To 250 mg 3 time(s) per day every day

Detailed description

The starting dosage in adults is 750 mg/day, in three divided doses provided that it is sufficient to normalise serum cholestanol and/or urine bile alcohols. The daily dose can be subsequently increased in 250 mg increments to a maximum of 1000 mg/day if the serum cholestanol and/or urine bile alcohols remain elevated.

Dosage considerations

It can be taken without regards to food.

Active ingredient

Chenodeoxycholic acid

Exogenous chenodeoxycholic acid is used as replacement therapy to restore the feedback inhibition lost due to the deficiency/absence of endogenous chenodeoxycholic acid. In CTX, deficiency of chenodeoxycholic acid causes a lack of feedback of cholesterol 7 alpha hydroxylase (CYP7A1) and HMG CoA reductase, causing increased production of atypical bile acids, bile alcohols and cholestanol that lead to the pathological consequences of the condition.

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