Exploring Treatment Potential: Clinical and Genetic Insights into Biotinidase Deficiency in Six Patients: A Tertiary Care Hospital Experience

Biotinidase deficiency (BTD) is a rare metabolic disorder characterized by impaired biotin recycling, leading to neurological and dermatological symptoms. Early diagnosis and treatment are crucial for improving patient outcomes. To describe the clinical and genetic characteristics of six patients with BTD and evaluate the efficacy of treatment in improving their quality of life. Six patients diagnosed with BTD underwent EEG, urinary organic acid profiling, and genetic analysis to identify underlying variants. Treatment was initiated (one month of treatment with 20 mg/day of biotin supplementation), and patients were monitored for changes in symptoms and growth. Genetic analysis revealed two pathogenic variants (gene), with one variant (c.38_44delinsTCC) identified in five affected individuals and the second variant (c.1264del) in one affected individual. After treatment, significant improvements were observed in the patients’ overall quality of life, including hair color and growth enhancements. EEG and urinary organic acid profiling also showed improvements, indicating a positive response to treatment. This study highlights early diagnosis is the best option for the treatment of BTD in improving patient outcomes and on the irreversible damage. The identification of genetic variants associated with BTD and the positive response to treatment underscore the need for continued research and optimized management strategies for this rare disorder.