title: Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
abstract: In Hungary the national newborn screening programme for the detection of biotinidase deficiency was launched in 1989. In this study, we determined the genotypes of all patients identified at the Budapest Screening Centre that covers half of the country. The incidence of the disorder in Western Hungary is about three times the worldwide incidence. Overall, 21 different mutations were identified in 49 patients, including four novel mutations. Ten mutations proved to be unique to the Hungarian population.
authors.affiliation: Metabolic Screening Centre, Buda Children's Hospital, Budapest H-1023 Bolyai u. 5-7., Hungary. ilona.milankovics@hotmail.com <ilona.milankovics@hotmail.com>
authors.forename: Ilona
authors.initials: I
authors.lastname: Milánkovics
authors.forename: Eniko
authors.initials: E
authors.lastname: Kámory
authors.forename: Béla
authors.initials: B
authors.lastname: Csókay
authors.forename: Flóra
authors.initials: F
authors.lastname: Fodor
authors.forename: Csilla
authors.initials: C
authors.lastname: Somogyi
authors.forename: Agnes
authors.initials: A
authors.lastname: Schuler
mesh_terms: D000483:Alleles; D043523:Biotinidase / Q000235:genetics*; D028921:Biotinidase Deficiency / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening
chemical_list: D043523:Biotinidase