Pilot Screening for Biotinidase Deficiency in Newborns

摘要

In the study, the New York State Newborn Screening Program tested over 500,000 newborns for biotinidase deficiency, and determined that the disease demonstrated many of the requisites for inclusion in a newborn screening program. Investigators found that the biotinidase deficiency assay was suitable for high volume screening, as it was simple and inexpensive. The rate of false positives was low, and no false negatives were identified. Treatment and followup were judged to be simple, inexpensive, and effective, with early intervention preventing irreversible clinical sequelae which would otherwise lead to lifetime disability and higher medical costs or early death.