{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:33:05Z","timestamp":1777329185262,"version":"3.51.4"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G&gt;A) in\n                    <jats:italic>ALDH5A1<\/jats:italic>\n                    presenting with an unexpected association of typical SSADH deficiency manifestations with bilateral sensorineural hearing loss (SNHL). Brainstem evoked response audiometry (BERA) testing showed mid-frequency sensorineural hearing damage that suggested a hereditary component to SNHL. Whole exome sequencing (WES) failed to discern other genetic causes of deafness. Several variants of uncertain significance (VUS) detected in genes known for their role in hearing physiology could not be verified as the cause for the SNHL. It is known that central auditory processing depends on a delicate balance between excitatory and inhibitory neurotransmission, and GABA is known to play a significant role in this process. Additionally, excessive concentrations of accumulated GABA and GBH are known to cause a down-regulation of GABA receptors, which could have an adverse influence on hearing function. However, these mechanisms are very speculative in context of SNHL in a patient with inherited disorder of GABA metabolism. Injury of the globi pallidi, one of hallmarks of SSADH deficiency, could also be a contributory factor to SNHL, as was suspected in some other inborn errors in metabolism. We hope that this case will contribute to the understanding of phenotypic complexity of SSADH deficiency.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2023-0008","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T05:53:59Z","timestamp":1691646839000},"page":"63-68","source":"Crossref","is-referenced-by-count":2,"title":["Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency"],"prefix":"10.2478","volume":"26","author":[{"given":"M","family":"Parezanovi\u0107","sequence":"first","affiliation":[{"name":"Department of Pediatric Intensive Care , Mother and Child Health Care Institute \u201cDr Vukan \u010cupi\u0107\u201d , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Ili\u0107","sequence":"additional","affiliation":[{"name":"Clinical Genetics Outpatient Clinic , Mother and Child Health Care Institute \u201cDr Vukan \u010cupi\u0107\u201d , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Ostoji\u0107","sequence":"additional","affiliation":[{"name":"Department of Neurology , Mother and Child Health Care Institute \u201cDr Vukan \u010cupi\u0107\u201d , Belgrade , Serbia"},{"name":"University of Belgrade , Faculty of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Stevanovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology and Psychiatry for Children and Youth , University of Belgrade, Faculty of Medicine , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Je\u010dmenica","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology , Mother and Child Health Care Institute \u201cDr Vukan \u010cupi\u0107\u201d , Belgrade , Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Maver","sequence":"additional","affiliation":[{"name":"Clinical Institute of Genomic Medicine , University Medical Centre Ljubljana , Ljubljana , Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Sarajlija","sequence":"additional","affiliation":[{"name":"Clinical Genetics Outpatient Clinic , Mother and Child Health Care Institute \u201cDr Vukan \u010cupi\u0107\u201d , Belgrade , Serbia"},{"name":"University of Belgrade , Faculty of Medicine"},{"name":"University of Eastern Sarajevo , Faculty of Medicine, Fo\u010da, Republic of Srpska , Bosnia and Hercegovina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,7,31]]},"reference":[{"key":"2026042716343846104_j_bjmg-2023-0008_ref_001","doi-asserted-by":"crossref","unstructured":"Pearl PL, DiBacco ML, Papadelis C, Opladen T, Hanson E, Roullet JB, et al. 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