IJERPH, Vol. 19, Pages 8141: High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy

IJERPH, Vol. 19, Pages 8141: High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy International Journal of Environmental Research and Public Health doi: 10.3390/ijerph19138141 Authors: Daniela Semeraro Sara Verrocchio Giulia Di Dalmazi Claudia Rossi Damiana Pieragostino Ilaria Cicalini Rossella Ferrante Silvia Di Michele Liborio Stuppia Cristiano Rizzo Francesca Romana Lepri Antonio Novelli Carlo Dionisi-Vici Vincenzo De-Laurenzi Ines Bucci Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis of BD, thus preventing the high morbidity and mortality associated with untreated disease. Both profound and partial BD variant can be detected by NBS test, and serum enzyme activity and/or mutational analysis are required for definitive diagnosis. In Italy, BD is included in the screening panel for inborn errors of metabolism (IEMs) that has been declared mandatory in 2016. We analyzed the data of the first 3 years of the NBS for BD in our region (Abruzzo, Italy), with the aim to describe the outcomes of this recently introduced screening program. In over 26,393 newborns screened, we found 2 carriers and 16 cases with genotype associated with p...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research