Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency

Barry Wolf*, Robert Spencer, Tucker Gleason

*Corresponding author for this work

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

Sensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss.

Original languageEnglish (US)
Pages (from-to)242-246
Number of pages5
JournalJournal of Pediatrics
Volume140
Issue number2
DOIs
StatePublished - Jan 1 2002

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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