title: High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
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 10mg 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.
authors: Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Voriou Ipirou 1-3, Vrilissia GR-152 35, Athens, Greece.
authors: Georgia
authors: G
authors: Thodi
authors: Kleopatra H
authors: KH
authors: Schulpis
authors: Elina
authors: E
authors: Molou
authors: Vassiliki
authors: V
authors: Georgiou
authors: Yannis L
authors: YL
authors: Loukas
authors: Yannis
authors: Y
authors: Dotsikas
authors: Konstantinos
authors: K
authors: Papadopoulos
authors: Sofia
authors: S
authors: Biti
mesh_terms: D001710:Biotin / Q000008:administration & dosage; D043523:Biotinidase / Q000097:blood / Q000235:genetics*; D028921:Biotinidase Deficiency / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004789:Enzyme Activation; D057075:Enzyme Assays; D005260:Female; D015894:Genome, Human; D006115:Greece / Q000453:epidemiology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D001710:Biotin; D043523:Biotinidase