Mutations in BTD gene causing biotinidase deficiency: a regional report

Çiğdem Seher Kasapkara; Melek Akar; Mehmet Nuri Özbek; Heybet Tüzün; Bedri Aldudak; Rıza Taner Baran; Tijen Tanyalçın

doi:10.1515/jpem-2014-0056

Article

Mutations in BTD gene causing biotinidase deficiency: a regional report

Çiğdem Seher Kasapkara , Melek Akar , Mehmet Nuri Özbek , Heybet Tüzün , Bedri Aldudak , Rıza Taner Baran and Tijen Tanyalçın

Published/Copyright: November 25, 2014

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 28 Issue 3-4

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.

Keywords: biotinidase deficiency; molecular analysis; newborn screening

Corresponding author: Dr. Çiğdem Seher Kasapkara, Department of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey, E-mail: cskasapkara@gmail.com

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Received: 2014-2-12

Accepted: 2014-10-22

Published Online: 2014-11-25

Published in Print: 2015-3-1

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https://doi.org/10.1515/jpem-2014-0056

Keywords for this article

biotinidase deficiency; molecular analysis; newborn screening