Behandeling van biotinidasedeficiëntie vergt juiste aflevering van biotine

Since 1 January 2007 newborn screening in the Netherlands is expanded with 13 inborn errors of metabolism. One of these disorders, biotinidase deficiency, was diagnosed in an asymptomatic boy, third child of Afghan 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 extemporaneously compounded biotin capsules. Biotin therapy was continued at home, but the child was readmitted after 2 months with symptoms of a biotinidase deficiency: hair loss and skin lesions. Evaluation revealed incorrect biotin supply. Symptoms disappeared after therapy with the extemporaneously compounded biotin capsules. It is essential that treatment of biotinidase deficiency, with exceptional extemporaneous compounding, is managed by both the doctor and the (hospital) pharmacist to be sure that the biotin is given in the correct form and in sufficient amounts.