Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Reversible deafness caused by biotinidase deficiency.

R Straussberg1, E Saiag, L Harel

  • 1Department Pediatrics, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petah Tiqva, Israel.

Pediatric Neurology
|October 18, 2000
PubMed
Summary

Complete biotinidase deficiency caused reversible sensorineural deafness in a child. Prompt biotin treatment improved hearing and speech, demonstrating the critical need for timely intervention.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Interventional Cultural and Language Assistance Program: Associations between Cultural and Linguistic Factors and Satisfaction with Cancer Care.

Journal of community medicine & health education·2018
Same author

Children post liver transplantation hospitalized with fever are at a high risk for bacterial infections.

Transplant infectious disease : an official journal of the Transplantation Society·2016
Same author

Hepatic involvement in congenital cytomegalovirus infection - infrequent yet significant.

Journal of viral hepatitis·2014
Same author

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2013
Same author

Characteristics of non-typhi Salmonella gastroenteritis associated with bacteremia in infants and young children.

Infection·2011
Same author

Protozoan genomes : karyotype analysis, chromosome structure, and chromosome specific libraries.

Methods in molecular biology (Clifton, N.J.)·2011

Area of Science:

  • Genetics and Metabolic Disorders
  • Audiology and Neuroscience

Background:

  • Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
  • Untreated deficiency can lead to severe neurological symptoms, including hearing loss.

Observation:

  • A child with complete biotinidase deficiency presented with bilateral sensorineural deafness.
  • Initial brainstem acoustic-evoked response showed no response to a 90 dB stimulus.

Findings:

  • Daily biotin supplementation (20 mg) led to a significant hearing improvement.
  • Repeated brainstem acoustic-evoked response showed an improved threshold of 65 dB.
  • The child regained speech ability post-treatment.

Implications:

Related Experiment Videos

  • This case demonstrates that hearing loss in biotinidase deficiency can be reversible.
  • Highlights the importance of early diagnosis and immediate biotin replacement therapy.
  • Underscores the link between metabolic disorders and auditory function.