Single center experience of biotinidase deficiency: 259 patients and six novel mutations


Creative Commons License

Canda E., Yazici H., Er E., Kose M., Basol G. , Onay H., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.8, pp.917-926, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 8
  • Publication Date: 2018
  • Doi Number: 10.1515/jpem-2018-0148
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.917-926
  • Keywords: biotinidase deficiency, newborn screening, novel mutation, ASYMPTOMATIC ADULTS, GENE-MUTATIONS, VISION LOSS, CHILDREN, BTD, MYELOPATHY, NEWBORNS, FEATURES, FAMILY, DEFECT

Abstract

Background: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period.