Newborn Screening for Biotinidase Deficiency: Pilot Study and Follow-Up of Identified Cases

The pilot study conducted in Massachusetts screened 99,398 newborns for biotinidase deficiency, identifying three with profound deficiency and seven with partial deficiency. Early biotin treatment was initiated for those with profound deficiency, resulting in thriving infants, while those with partial deficiency showed normal growth without therapy. The study demonstrated the effectiveness of newborn screening in identifying biotinidase deficiency and suggested its potential value in preventing irreversible complications. Additionally, transient biotinidase deficiency was more common in low birth weight infants. The study highlighted the importance of early detection, as evidenced by a neighboring state's case where delayed diagnosis led to severe symptoms.