TürkiyeDiagnosis and screening
Hearing screening of newborns with biotinidase deficiency in Konya was the same as in healthy babies
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Babies found to have biotinidase deficiency through newborn screening in Konya were studied. Hearing tests were done in the first two weeks. The results were similar to those of healthy babies. No link was found between enzyme level and hearing results. This suggests that hearing loss is not present at birth but develops when the condition is left untreated.
What does it mean for patients and families?
Even if the hearing test at birth is normal, follow-up is necessary. Early diagnosis and regular hearing check-ups are important. The treatment and check-up plan is made with a doctor.
Source
Scientific paper: Auditory function at birth in infants with biotinidase deficiency. International Journal of Pediatric Otorhinolaryngology, 2026. DOI: 10.1016/j.ijporl.2026.112818 · PubMed 41955783
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Biotinidase deficiency
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.