High incidence of partial biotinidase deficiency cases in newborns of Greek origin |
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| Authors: | Georgia Thodi Kleopatra H. Schulpis Elina Molou Vassiliki Georgiou Yannis L. Loukas Yannis Dotsikas Konstantinos Papadopoulos Sofia Biti |
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| Affiliation: | 1. Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Voriou Ipirou 1-3, Vrilissia GR-152 35, Athens, Greece1;2. Institute of Child Health, Aghia Sophia Children''s Hospital, 11527 Athens, Greece2;3. Department of Pharm. Chemistry, School of Pharmacy, University of Athens, Panepistimiopolis of Zographou, GR-157 71, Athens, Greece;4. Obstetrics and Gynaecology Hospital Diagnostic, Therapeutic and Research Center, IASO S.A. 37-39 Kifisias Av., GR-151 23, Maroussi, Athens, Greece |
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| Abstract: | Biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early. 63,119 neonates were tested for BTD according to a 3-step protocol. Biotinidase activity was initially estimated through standard colorimetric method on dried blood spots, then the suspected samples were subjected to molecular analysis of the BT gene and determination of BT activity in serum through an HPLC method. 14 infants with partial BTD (incidence 1:4508) were detected. Nine of them were homozygotes (D444H/D444H), and 4 compound heterozygotes carrying D444H combined with Q456H, T532M, C186Y and R157H, respectively. All were asymptomatic and supplemented with 10 mg biotin. Although the number of screened neonates is rather small, it may be suggested that the incidence of the partial BTD infants is the highest ever reported. Detection of BTD should be added to the Greek national neonatal screening program. |
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| Keywords: | BT, Biotinidase BTD, Biotinidase deficiency |
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