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Preliminary evaluation of biotinidase deficiency screening results in Igdir province: an ongoing retrospective analysis

Busra BILIK SEZER, Mandehan GUZELKAYA and Solmaz ALKAN

Biotinidase deficiency (BD) is an autosomal recessive metabolic disorder that can lead to severe neurological and cutaneous symptoms if untreated. Early detection through neonatal screening is vital for preventing irreversible complications. Given the high rates of consanguineous marriages in certain regions of Türkiye, local data are essential for assessing regional prevalence within the National Newborn Screening Program (NTP).To provide a preliminary evaluation of screening outcomes, interim recall rates, and the preliminary incidence of profound and partial BD among newborns in Igdir province.This ongoing retrospective descriptive study analyzes data from all newborns screened in Iğdır between 2012 and 2025. Screening is conducted via the colorimetric method on dried blood spots (Guthrie cards). Infants with suspected low enzyme activity are recalled for repeat testing and quantitative enzyme analysis. Descriptive statistics were used to calculate interim recall rates and incidence estimates for profound (<10% activity) and partial (10-30% activity) BD.Based on the preliminary data analysis of approximately 25,000 newborns (interim estimate), initial positive screening results were observed in 458 infants (approx. 1.83%), who were subsequently recalled for confirmatory testing. To date, preliminary diagnostic workups have identified 114 cases classified as profound deficiency and 170 as partial deficiency. Current projections suggest an incidence rate of 1 in 62 in the Igdir region, which is markedly higher than national and global averages.The high interim recall rate may reflect pre-analytical variability in dried blood spot sampling and/or increased genetic risk in the region; final analyses are ongoing to validate incidence estimates and programme performance metrics.Interim findings suggest a high regional prevalence of BD in Igdir, underscoring the indispensable role of the NTP in Eastern Anatolia. Optimizing pre-analytical sample collection and recall follow-up may improve programme efficiency. Family physicians are central to counselling, long-term management, and follow-up of confirmed cases.