Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey


Yilmaz B. S. , Mungan N. O. , Kor D., BULUT F. D. , Seydaoglu G., Oktem M., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.3, pp.339-343, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1515/jpem-2017-0406
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.339-343
  • Keywords: biotinidase, novel mutation, partial, profound, NEWBORN, FEATURES, CHILDREN, FAMILY, GENE
  • Gazi University Affiliated: Yes

Abstract

Background: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008.