title: Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
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.
authors.affiliation: Department of Research, Connecticut Children's Medical Center, Hartford 06106, USA.
authors.forename: Barry
authors.initials: B
authors.lastname: Wolf
authors.forename: Robert
authors.initials: R
authors.lastname: Spencer
authors.forename: Tucker
authors.initials: T
authors.lastname: Gleason
mesh_terms: D017668:Age of Onset; D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D002648:Child; D002675:Child, Preschool; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications*; D015997:Neonatal Screening; D012189:Retrospective Studies
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase