Hearing loss in biotinidase deficiency: Genotype-phenotype correlation

Sivri H. S. K. L., Genc G. A., Tokatly A., DURSUN A., Copkun T., Aydyn H. Y., ...More

JOURNAL OF PEDIATRICS, vol.150, no.4, pp.439-442, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 150 Issue: 4
  • Publication Date: 2007
  • Doi Number: 10.1016/j.jpeds.2007.01.036
  • Journal Name: JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.439-442
  • Hacettepe University Affiliated: Yes

Abstract

Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have heating loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth.