Behandeling van biotinidasedeficiëntie vergt juiste aflevering van biotine

Since 1 January 2007 newborn screening in the Netherlands is expanded with thirteen inborn errors of metabolism. One of these disorders, biotinidase deficiency, was diagnosed in an asymptomatic boy, third child of Afghanistan parents. Biotinidase deficiency is treated with oral biotin. For instruction of adequate administration of the medication, the child was admitted to the hospital for one day. During this stay he was treated with extemporaneous compounded biotine capsules. Biotine therapy was continued at home, but the child was readmitted after two months with symptoms of a biotinidase deficiency: hair loss and skin lesions. Evaluation revealed incorrect biotine supply. Symptoms disappeared after therapy with the extemporaneous compounded biotine capsules. It is essential that treatment of biotinidase deficiency, with exceptional extemporaneous compounding is managed by both the doctor and (hospital) pharmacist to be sure that the biotin is given in the correct form and in sufficient amounts.