Het juiste medicijn voor cerebrotendineuze xanthomatose

Not ursodeoxycholic acid, but chenodeoxycholic acid

• Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by a deficient enzyme involved in bile acid synthesis.

• This results in a deficiency of the primary bile acid chenodeoxycholic acid, which leads to the accumulation of unwanted metabolites amongst other places in the central nervous system.

• Oral administration of chenodeoxycholic acid can inhibit the production of the unwanted metabolites, in contrast to ursodeoxycholic acid.

• The manufacturer of chenodeoxycholic acid recently stopped the production of this drug.

• Some pharmacists now supply the ineffective ursodeoxycholic acid to CTX patients, which is undesirable and potentially harmful to them.

• The manufacture of chenodeoxycholic acid has been taken over by another German manufacturer and can be obtained through International Pharmacy Venlo.