title: Mutations in BTD gene causing biotinidase deficiency: a regional report.
abstract: Biotinidase deficiency is an autosomal recessive inborn error of biotin metabolism. Children with biotinidase deficiency cannot cleave biocytin and, therefore, cannot recycle biotin. Untreated individuals become secondarily biotin deficient, which in turn results in decreased activities of the biotin-dependent carboxylases and the subsequent accumulation of toxic metabolites causing clinical symptoms. Biotinidase deficiency is characterized by neurological, cutaneous manifestations and metabolic abnormalities. The worldwide incidence of profound biotinidase deficiency has been estimated at 1:112,271. The human biotinidase gene is located on chromosome 3p25 and consists of four exons with a total length of 1629 base pairs. To date, more than 100 mutations in the biotinidase gene known to cause biotinidase deficiency have been reported. The vast majority of mutations are homozygous or compound heterozygous. Finding known mutations can be correlated with the biochemical enzymatic results. This report summarizes the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey.
authors.forename: Çiğdem Seher
authors.initials: ÇS
authors.lastname: Kasapkara
authors.forename: Melek
authors.initials: M
authors.lastname: Akar
authors.forename: Mehmet Nuri
authors.initials: MN
authors.lastname: Özbek
authors.forename: Heybet
authors.initials: H
authors.lastname: Tüzün
authors.forename: Bedri
authors.initials: B
authors.lastname: Aldudak
authors.forename: Rıza Taner
authors.initials: RT
authors.lastname: Baran
authors.forename: Tijen
authors.initials: T
authors.lastname: Tanyalçın
mesh_terms: D043523:Biotinidase / Q000235:genetics*; D028921:Biotinidase Deficiency / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D014421:Turkey / Q000453:epidemiology
chemical_list: D043523:Biotinidase