Newborn Screening for Biotinidase Deficiency: Pilot Study and Follow-Up of Identified Cases
January 1992
in “
Screening
”
New to Biotin? There is a guide in the encyclopedia. Read the guide → Studysummary This study concluded that newborn screening for biotinidase deficiency effectively identified cases and likely prevented irreversible complications from the disorder in some infants.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
