Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

Biotinidase deficiency (BTD) was a metabolic disorder that, if untreated, could lead to severe neurological and dermatological symptoms such as seizures, developmental delays, alopecia, and skin rashes. The disorder was caused by genetic mutations in the BTD gene, with over 200 mutations identified. The severity of symptoms depended on the level of enzyme activity, with profound deficiency classified as less than 10% of normal serum activity. Early detection through newborn screening and treatment with oral biotin significantly improved outcomes, preventing severe manifestations and increasing asymptomatic cases. However, some symptoms, like auditory and visual defects, could persist despite treatment. Newborn screening programs, initiated in 1984, were crucial for early detection and management, although long-term natural history data was limited.