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Does glutaric aciduria type 1 affect hearing function?

Dilek Demiral Özgedi K1, Suna Tokgöz Yılmaz2, Berrak Bilginer Gürbüz3

  • 1Health Sciences Faculty, Department of Speech Language Therapy, Lokman Hekim University, Söğütözü Mh. 2179 Cd. No: 6 Çankaya, 06510, Ankara, Turkey. dilek.demir10@yahoo.com.

Metabolic Brain Disease
|April 30, 2022
PubMed
Summary

Glutaric aciduria type 1 (GA-1) is linked to hearing loss, especially in symptomatic patients. Comprehensive audiological evaluations are crucial for early detection and management of auditory impairment in GA-1.

Keywords:
Auditory brainstem responseContralateral suppressionDistortion product otoacoustic emissionsGlutaric aciduria type 1Pure tone hearing thresholds

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Area of Science:

  • Neurology
  • Genetics
  • Audiology

Background:

  • Glutaric aciduria type 1 (GA-1) is an inherited metabolic disorder.
  • Auditory system involvement in GA-1 is not fully understood.
  • Early detection of hearing loss is vital for developmental outcomes.

Purpose of the Study:

  • To evaluate audiological findings in patients with GA-1.
  • To identify correlations between clinical presentation and hearing impairment.
  • To assess the impact of encephalopathic crises on auditory function.

Main Methods:

  • A comprehensive audiological test battery was administered to 17 GA-1 patients and 20 healthy controls.
  • Tests included conventional audiometry, distortion product otoacoustic emissions (DPOAEs), contralateral suppression, and auditory brainstem response (ABR).
  • Clinical data, including neurological status and MRI findings, were correlated with audiological results.

Main Results:

  • 77.47% of GA-1 patients exhibited mild sensorineural hearing loss.
  • Symptomatic patients, particularly those with a history of encephalopathic crisis, showed significantly worse hearing thresholds.
  • ABR revealed prolonged latencies and distorted waves in GA-1 patients, especially those with moderate-to-severe mental motor retardation (MMR).
  • A correlation was found between macrocephaly and hearing loss.
  • MRI showed fronto-temporal atrophy and sylvian fissure enlargement in GA-1 patients.

Conclusions:

  • GA-1 is associated with significant auditory impairment, primarily sensorineural hearing loss.
  • Symptomatic patients and those with a history of encephalopathic crisis are at higher risk for hearing loss.
  • A detailed audiological evaluation battery is essential for managing GA-1 patients, especially those with neurological deficits.