PMID- 33256818 OWN - NLM STAT- MEDLINE DCOM- 20210618 LR - 20210618 IS - 1750-1172 (Electronic) IS - 1750-1172 (Linking) VI - 15 IP - 1 DP - 2020 Dec 1 TI - Audiological and otologic manifestations of glutaric aciduria type I. PG - 337 LID - 10.1186/s13023-020-01571-w [doi] LID - 337 AB - BACKGROUND: Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study of comprehensive audiological and otologic evaluation in patients with GA-1 to date. METHODS: Thirteen patients diagnosed with GA-1 between January 1994 and December 2019 with audiological, radiological and genetic manifestations were retrospectively analyzed. Hearing tests were performed in all patients. MRI was performed for radiological evaluation. RESULTS: Hearing loss was found in 76.9% (10/13) of GA-1 patients, including slight hearing loss in 46.1% (6/13) of patients, mild hearing loss in 15.4% (2/13) of patients, and moderate hearing loss in 7.7% (1/13) of patients. Normal hearing thresholds were seen in 23% (3/13) of patients. Patients with intensive care unit (ICU) admission history showed significantly worse hearing than those without (29.17 +/- 12.47 vs 13.56 +/- 3.93 dB HL, 95% CI 2.92-24.70, p = 0.0176). One patient had moderate sensorineural hearing loss and a past history of acute encephalopathic crisis. No usual causative gene mutations associated with hearing loss were found in these patients. MRI showed a normal vestibulocochlear apparatus and cochlear nerve. One patient with extensive injury of the basal ganglia on MRI after acute encephalopathic crisis was found to have moderate sensorineural hearing loss. Two patients with disability scores above 5 were found to have mild to moderate hearing impairment. No obvious correlation between macrocephaly and hearing loss was found. CONCLUSION: A high prevalence of hearing impairment is found in GA-1 patients. Adequate audiological evaluation is essential for these patients, especially for those after encephalopathic crises or with ICU admission history. FAU - Chen, Yen-Chi AU - Chen YC AD - Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. AD - Department of Otolaryngology-Head and Neck Surgery, Kaoshiung Municipal Gangshan Hospital (Outsourceded by Show-Chwan Memorial Hospital), Kaoshiung, Taiwan. FAU - Huang, Chii-Yuan AU - Huang CY AD - Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. AD - Department of Otolaryngology-Head and Neck Surgery, School of Medicine, National Yang-Ming University, Taipei, Taiwan. FAU - Lee, Yen-Ting AU - Lee YT AD - Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. FAU - Wu, Chia-Hung AU - Wu CH AD - Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan. AD - Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan. AD - School of Medicine, National Yang-Ming University, Taipei, Taiwan. FAU - Chang, Sheng-Kai AU - Chang SK AD - Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. FAU - Cheng, Hsiu-Lien AU - Cheng HL AD - Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. AD - Department of Biomedical Engineering, National Yang-Ming University, Taipei, Taiwan. FAU - Chang, Po-Hsiung AU - Chang PH AD - Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. FAU - Niu, Dau-Ming AU - Niu DM AD - Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. dmniu1111@yahoo.com.tw. AD - Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan. dmniu1111@yahoo.com.tw. FAU - Cheng, Yen-Fu AU - Cheng YF AUID- ORCID: 0000-0003-1995-5854 AD - Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. yfcheng2@vghtpe.gov.com. AD - Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan. yfcheng2@vghtpe.gov.com. AD - Department of Otolaryngology-Head and Neck Surgery, School of Medicine, National Yang-Ming University, Taipei, Taiwan. yfcheng2@vghtpe.gov.com. AD - Institute of Brain Science, National Yang-Ming University, Taipei, Taiwan. yfcheng2@vghtpe.gov.com. LA - eng GR - 109-2321-B-075-001/Ministry of Science and Technology, Taiwan/ GR - 109-2321-B-075-001/Ministry of Science and Technology, Taiwan/ PT - Journal Article DEP - 20201201 PL - England TA - Orphanet J Rare Dis JT - Orphanet journal of rare diseases JID - 101266602 RN - EC 1.3.8.6 (Glutaryl-CoA Dehydrogenase) RN - Glutaric Acidemia I SB - IM MH - *Amino Acid Metabolism, Inborn Errors MH - *Brain Diseases, Metabolic MH - Glutaryl-CoA Dehydrogenase/deficiency/genetics MH - *Hearing Loss, Sensorineural/genetics MH - Humans MH - Retrospective Studies PMC - PMC7706203 OTO - NOTNLM OT - Glutaric aciduria type 1 OT - Hereditary hearing loss OT - Syndromic hearing loss COIS- The authors declare that they have no competing interests. EDAT- 2020/12/02 06:00 MHDA- 2021/06/22 06:00 PMCR- 2020/12/01 CRDT- 2020/12/01 05:37 PHST- 2020/05/09 00:00 [received] PHST- 2020/10/05 00:00 [accepted] PHST- 2020/12/01 05:37 [entrez] PHST- 2020/12/02 06:00 [pubmed] PHST- 2021/06/22 06:00 [medline] PHST- 2020/12/01 00:00 [pmc-release] AID - 10.1186/s13023-020-01571-w [pii] AID - 1571 [pii] AID - 10.1186/s13023-020-01571-w [doi] PST - epublish SO - Orphanet J Rare Dis. 2020 Dec 1;15(1):337. doi: 10.1186/s13023-020-01571-w.