Biotinidase deficiency is one of the most common hereditary metabolic diseases in our country with autosomal recessive transition and has nervous system and skin findings predominantly. Newborns with suspicious results in the national newborn screening program are referred to pediatric metabolic diseases outpatient clinics. COVID-19, announced as a pandemic on March 11, 2020, has led to disruptions in the functioning of the health system and changes in the health behavior of patients. In this study, the effects of the pandemic on the applications of the outpatient clinic to biotinidase deficiency screening were examined. A total of 264 infants who came to Hacettepe University İhsan Doğramacı Children`s Hospital Pediatric Metabolism Clinic within one year before and after March 11, 2020 were included in the study. There was no statistically significant difference before and after the pandemic in terms of the times of taking screening samples and applying to our clinic but applicants from the Central Anatolia Region accounted for 49.7% of the total applications before the pandemic, and 63.6% after the pandemic (p=0.03). The rate of applicants from the Eastern Anatolia Region decreased from 17.8% to 3.7% after the pandemic (p<0.01). It was determined that the pandemic did not affect the operation of the neonatal biotinidase screening program, but was associated with changes in the health behaviors of families.

Keywords: biotinidase deficiency, COVID-19, pandemic, health service, newborn screening program