Sterol 27-hydroxylase deficiency, cerebrotendinous xanthomatosis (CTX)

Active Ingredient: Chenodeoxycholic acid

Indication for Chenodeoxycholic acid

Population group: only infants (40 days - 1 year old) , children (1 year - 12 years old) , adolescents (12 years - 18 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:

5 mg/kg in 3 divided doses daily

Route of admnistration

Oral

Defined daily dose

5 - 5 mg per kg of body weight

Dosage regimen

From 1.667 To 1.667 mg per kg of body weight 3 time(s) per day every day

Detailed description

The starting dose in children is 5 mg/kg/day in three divided doses. Where the dose calculated is not a multiple of 250 mg, the nearest dose below the maximum of 15 mg/kg/day should be selected, provided that is sufficient to normalise serum cholestanol and/or urine bile alcohols.

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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