Reversible deafness caused by biotinidase deficiency

Rachel Straussberg, Esther Saiag, Liora Harel, Stanley H. Korman, Jacob Amir

Research output: Contribution to journalArticlepeer-review


We present a child with complete biotinidase deficiency who developed bilateral sensorineural deafness without a response to a maximal stimulus of 90 dB in brainstem acoustic-evoked response. After treatment with 20 mg biotin daily, a repeated brainstem acoustic-evoked response demonstrated an improved hearing threshold of 65 dB, and the child began to talk. The case is a rare example of reversible hearing loss caused by to biotinidase deficiency and highlights the need for immediate replacement therapy once the diagnosis is established. (C) 2000 by Elsevier Science Inc.

Original languageEnglish
Pages (from-to)269-270
Number of pages2
JournalPediatric Neurology
Issue number3
StatePublished - Sep 2000
Externally publishedYes


Dive into the research topics of 'Reversible deafness caused by biotinidase deficiency'. Together they form a unique fingerprint.

Cite this