Respiratory Evaluation in Patients Diagnosis of Biotinidase Deficiency

Objective: Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disorder leading to neurological, dermatological, and, potentially, respiratory complications.While neurological and cutaneous manifestations of BD are well-documented, respiratory involvement remains less explored.This study aimed to evaluate respiratory function in patients diagnosed with BD, specifically assessing the presence of chronic respiratory symptoms and their potential relationship with BD. Methods:We conducted a retrospective study of 13 patients with confirmed BD who presented with respiratory complaints at our pediatric pulmonology clinic.Clinical evaluations, pulmonary function tests (PFTs), and bronchodilator responsiveness were assessed.Statistical analyses were performed using SPSS 25.0. Results:The median age of patients was 9 years (IQR: 9-13), with 61.5% being female.A total of 77% had parental consanguinity.Three patients (23.1%) exhibited obstructive patterns on PFTs, all of whom demonstrated significant bronchodilator responsiveness.These patients were treated with long-acting beta-agonists and inhaled corticosteroids, resulting in resolution of symptoms within three weeks.No significant correlation was observed between biotinidase enzyme activity and respiratory parameters. Conclusion:The prevalence of reversible airway obstruction in BD patients closely aligns with the general population prevalence of asthma, suggesting that these findings may be coincidental rather than causally related to BD.Standard asthma therapy effectively alleviated symptoms, further supporting this interpretation.Future research with larger cohorts and long-term follow-up is warranted to clarify the respiratory implications of BD.