Audiologic findings in children with biotinidase deficiency in Turkey

G. A. Genc*, H. S. Sivri-Kalkanoǧlu, A. Dursun, H. I. Aydin, A. Tokatli, L. Sennaroglu, E. Belgin, B. Wolf, T. Coşkun

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Objective: Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many features of the disorder are reversible following treatment with biotin, the hearing loss appears to be irreversible. In the present study, hearing status of patients with biotinidase deficiency is characterized in a Turkish population. Methods: Subjective and objective audiologic tests were performed on 20 children with profound biotinidase deficiency. Results: Sensorineural hearing loss occurs in approximately 55% of the children with biotinidase deficiency. The hearing loss varies in severity from mild to profound hearing loss. In children diagnosed immediately after birth because they had an older sibling with the disorder, statistically significant differences were found between ABR results and age of diagnosis (p < 0.05). Greater prolongation in ABR latencies were observed in the late-diagnosed children compared to that in the early-diagnosed children (p < 0.05). Conclusion: Early diagnosis is important to prevent peripheral and central hearing loss. Children with biotinidase deficiency who have hearing loss are likely at increased risk for having speech and language problems. If hearing aids do not provide sufficient amplification, cochlear implantation may be indicated in these children. Therefore, it is important to test the hearing thresholds of these children with hearing aids and evaluate their language development.

Original languageEnglish (US)
Pages (from-to)333-339
Number of pages7
JournalInternational journal of pediatric otorhinolaryngology
Issue number2
StatePublished - Feb 2007


  • Auditory brainstem response
  • Biotinidase deficiency
  • Hearing loss
  • Peripheral hearing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology


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