General Information About Biotinidase Deficiency
Disease Details and Frequently Asked Questions
It is a genetic metabolic disease where the enzyme responsible for separating the 'biotin' vitamin—which is necessary for cells to convert fats and carbohydrates into energy—from protein and making it available for the body's use does not function.
It is not contagious. In cases where both the mother and father are carriers, it is passed to the child in an autosomal recessive manner. It is seen more frequently in countries like Turkey, where consanguineous marriages are common.
If treatment is delayed in babies; resistant epileptic seizures (convulsions), extreme muscle looseness (hypotonia), hair loss, eczema-like red rashes on the skin, and respiratory difficulties emerge.
Yes, if the disease is not detected and the brain is left without the vitamin for a long time, irreversible intellectual disability, permanent hearing and vision loss, and even infant death can occur.
With the Newborn Heel Prick Blood Screening Program, which is mandatory throughout Turkey, the enzyme deficiency can be detected before the baby becomes ill and without showing any symptoms.
Its treatment is one of the most successful and inexpensive solutions in modern medicine. The baby is given oral Biotin (vitamin) pills/syrup in a free form every day for life, and in this way, the child develops 100% healthily.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
