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Hearing loss in biotinidase deficiency: genotype-phenotype correlation

Hatice Serap Kalkanoğlu Sivri1, Gülsüm Aydan Genç, Ayşegül Tokatli

  • 1Hacettepe University, Department of Pediatrics, Nutrition & Metabolism Unit, Ankara, Turkey.

The Journal of Pediatrics
|March 27, 2007
PubMed

Insights

Children with biotinidase deficiency and null mutations face a higher risk of hearing loss. Early treatment after birth can prevent hearing loss in these children, even with null mutations.

Area of Science:

  • Genetics
  • Pediatrics
  • Audiology

Background:

  • Biotinidase deficiency is an inherited metabolic disorder.
  • Hearing loss is a common symptom of untreated biotinidase deficiency.
  • Genetic mutations in the BTD gene cause biotinidase deficiency.

Purpose of the Study:

  • To compare the risk of hearing loss in children with different types of biotinidase deficiency mutations.
  • To determine the impact of treatment timing on hearing loss prevention in null mutation cases.

Main Methods:

  • Retrospective analysis of patient data.
  • Comparison of hearing outcomes based on mutation type (null vs. missense).
  • Evaluation of treatment initiation timing and its correlation with hearing preservation.

Main Results:

  • Children with null mutations showed a higher incidence of hearing loss compared to those with missense mutations.
  • Hearing loss developed even in some treated patients if treatment was delayed.
  • Prompt treatment initiation shortly after birth was associated with the prevention of hearing loss in null mutation cases.

Conclusions:

  • Mutation type significantly influences the risk of hearing loss in biotinidase deficiency.
  • Early diagnosis and timely treatment are crucial for preventing hearing loss in infants with biotinidase deficiency, particularly those with null mutations.
  • Genetic screening and newborn screening programs are vital for early intervention.

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