Article
Mutations in BTD gene causing biotinidase deficiency: a regional report.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2015
Kasapkara Çiğdem Seher, Akar Melek, Özbek Mehmet Nuri, Tüzün Heybet, Aldudak Bedri, Baran Rıza Taner, Tanyalçın Tijen
Abstract excerpt
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...
Topics
- Biotinidase
- Biotinidase Deficiency
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation, Missense
- Polymorphism, Single Nucleotide
- Turkey