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: 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 B Tags: Article Source Type: research
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