Biotinidase Deficiency: Rapid Diagnosis Can Make All the Difference

A 2-month-old male infant with biotinidase deficiency, born to consanguineous parents, presented with seizures, alopecia, and other symptoms. Despite an uneventful perinatal period and no family history of seizures, the infant exhibited failure to thrive, skin rashes, and neurological issues. Biotinidase deficiency was suspected and treated with oral biotin, leading to rapid improvement in symptoms, including seizures, within 48 hours. Serum tests confirmed a profound deficiency, and ongoing biotin supplementation was advised. By 10 months, the child was thriving, developmentally normal, and seizure-free, with resolved skin and hair issues.