Article
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 - 2 Jul 2022
Semeraro Daniela, Verrocchio Sara, Di Dalmazi Giulia, Rossi Claudia, Pieragostino Damiana, Cicalini Ilaria, Ferrante Rossella, Di Michele Silvia, Stuppia Liborio, Rizzo Cristiano, Lepri Francesca Romana, Novelli Antonio, Dionisi-Vici Carlo, De Laurenzi Vincenzo, Bucci Ines
Abstract excerpt
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...
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