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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 150 Issue: 4
  • Publication Date: 2007
  • Doi Number: 10.1016/j.jpeds.2007.01.036
  • Title of Journal : JOURNAL OF PEDIATRICS
  • Page Numbers: pp.439-442


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.