Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

1. Pearl PL, DiBacco ML, Papadelis C, Opladen T, Hanson E, Roullet JB, et al. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. J Child Neurol. 2021;36(13–14):1153–1161. PearlPL DiBaccoML PapadelisC OpladenT HansonE RoulletJB Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study J Child Neurol 2021 36 13–14 1153 1161 Search in Google Scholar

2. Jakobs C, Bojasch M, Monch E, Rating D, Siemes H, Hanefeld F. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin. Chim. Acta. 1981;111:169–178. JakobsC BojaschM MonchE RatingD SiemesH HanefeldF Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism Clin. Chim. Acta 1981 111 169 178 Search in Google Scholar

3. Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, et al. Succinic Semialdehyde Dehydrogenase Deficiency: An Update. Cells. 2020;9(2):477. DidiášováM BanningA BrennenstuhlH Jung-KlawitterS CinquemaniC OpladenT Succinic Semialdehyde Dehydrogenase Deficiency: An Update Cells 2020 9 2 477 Search in Google Scholar

4. Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998 Aug;63(2):399–408. doi: 10.1086/301964. PMID: 9683595; ChamblissKL HinsonDD TrettelF MalaspinaP NovellettoA JakobsC Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) Am J Hum Genet 1998 Aug 63 2 399 408 10.1086/301964 9683595 Open DOISearch in Google Scholar

5. Martin K, McConnell A, Elsea SH. Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 Nov;36(13–14):1218–1222. MartinK McConnellA ElseaSH Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency J Child Neurol 2021 Nov 36 13–14 1218 1222 Search in Google Scholar

6. Pearl PL, Wiwattanadittakul N, Roullet JB, Gibson KM. Succinic Semialdehyde Dehydrogenase Deficiency. 2004 May 5 [updated 2016 Apr 28]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PearlPL WiwattanadittakulN RoulletJB GibsonKM Succinic Semialdehyde Dehydrogenase Deficiency 2004 May 5 [updated 2016 Apr 28] In: AdamMP EvermanDB MirzaaGM PagonRA WallaceSE BeanLJH GrippKW AmemiyaA editors. GeneReviews^® [Internet] Seattle (WA) University of Washington, Seattle 1993 2022 Search in Google Scholar

7. Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev Med Child Neurol. 2015;57(7):611–617. PearlPL ParvizM VogelK SchreiberJ TheodoreWH GibsonKM Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification Dev Med Child Neurol 2015 57 7 611 617 Search in Google Scholar

8. Phakey S, Rego T, Gaillard F, Panetta J, Evans A, De Jong G, et al. OCD symptoms in succinic semi-aldehyde dehydrogenase (SSADH) deficiency: a case report. BMC Psychiatry. 2020;20(1):395. PhakeyS RegoT GaillardF PanettaJ EvansA De JongG OCD symptoms in succinic semi-aldehyde dehydrogenase (SSADH) deficiency: a case report BMC Psychiatry 2020 20 1 395 Search in Google Scholar

9. Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, et al. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015;85(10):861–5 Lapalme-RemisS LewisEC De MeulemeesterC ChakrabortyP GibsonKM TorresC Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood Neurology 2015 85 10 861 5 Search in Google Scholar

10. Gao F, Wang G, Ma W, Ren F, Li M, Dong Y, et al. Decreased auditory GABA+ concentrations in presbycusis demonstrated by edited magnetic resonance spectroscopy. Neuroimage. 2015;106:311–6. GaoF WangG MaW RenF LiM DongY Decreased auditory GABA+ concentrations in presbycusis demonstrated by edited magnetic resonance spectroscopy Neuroimage 2015 106 311 6 Search in Google Scholar

11. Stebbings KA, Choi HW, Ravindra A, Caspary DM, Turner JG, Llano DA. Ageing-related changes in GABAergic inhibition in mouse auditory cortex, measured using in vitro flavoprotein autofluorescence imaging. J Physiol. 2016;594(1):207–21. StebbingsKA ChoiHW RavindraA CasparyDM TurnerJG LlanoDA Ageing-related changes in GABAergic inhibition in mouse auditory cortex, measured using in vitro flavoprotein autofluorescence imaging J Physiol 2016 594 1 207 21 Search in Google Scholar

12. Blasi P, Boyl PP, Ledda M, Novelletto A, Gibson KM, Jakobs C, et al. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab. 2002;76(4):348–62. BlasiP BoylPP LeddaM NovellettoA GibsonKM JakobsC Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms Mol Genet Metab 2002 76 4 348 62 Search in Google Scholar

13. Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, et al. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat. 2003;22(6):442–50. AkaboshiS HogemaBM NovellettoA MalaspinaP SalomonsGS MaropoulosGD Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency Hum Mutat 2003 22 6 442 50 Search in Google Scholar

14. Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, et al. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009;32(3):343–52. PearlPL GibsonKM CortezMA WuY Carter SneadO3rd KnerrI Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men J Inherit Metab Dis 2009 32 3 343 52 Search in Google Scholar

15. Attri SV, Singhi P, Wiwattanadittakul N, Goswami JN, Sankhyan N, Salomons GS, et al. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep. 2017;34:111–115. AttriSV SinghiP WiwattanadittakulN GoswamiJN SankhyanN SalomonsGS Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency JIMD Rep 2017 34 111 115 Search in Google Scholar

16. Knerr I, Gibson KM, Jakobs C, Pearl PL. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr. 2008;13(7):598–605. KnerrI GibsonKM JakobsC PearlPL Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients CNS Spectr 2008 13 7 598 605 Search in Google Scholar

17. Tokatly Latzer I, Roullet JB, Gibson KM, Pearl PL. Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2023 May 23. doi: 10.1002/jimd.12635. Epub ahead of print. PMID: 37219411. Tokatly LatzerI RoulletJB GibsonKM PearlPL Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency J Inherit Metab Dis 2023 May 23 10.1002/jimd.12635 Epub ahead of print. 37219411 Open DOISearch in Google Scholar

18. Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, et al. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010;42(4):255–8. KnerrI GibsonKM MurdochG SalomonsGS JakobsC CombsS Neuropathology in succinic semialdehyde dehydrogenase deficiency Pediatr Neurol 2010 42 4 255 8 Search in Google Scholar

19. Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, et al. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997;99(4):567–74. GibsonKM ChristensenE JakobsC FowlerB ClarkeMA HammersenG The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients Pediatrics 1997 99 4 567 74 Search in Google Scholar

20. Dobri SGJ, Ross B. Total GABA level in human auditory cortex is associated with speech-in-noise understanding in older age. Neuroimage. 2021;225:117474. DobriSGJ RossB Total GABA level in human auditory cortex is associated with speech-in-noise understanding in older age Neuroimage 2021 225 117474 Search in Google Scholar

21. Malaspina P, Roullet JB, Pearl PL, Ainslie GR, Vogel KR, Gibson KM. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int. 2016;99:72–84. MalaspinaP RoulletJB PearlPL AinslieGR VogelKR GibsonKM Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism Neurochem Int 2016 99 72 84 Search in Google Scholar

22. Tang X, Zhu X, Ding B, Walton JP, Frisina RD, Su J. Age-related hearing loss: GABA, nicotinic acetylcholine and NMDA receptor expression changes in spiral ganglion neurons of the mouse. Neuroscience. 2014;259:184–93. TangX ZhuX DingB WaltonJP FrisinaRD SuJ Age-related hearing loss: GABA, nicotinic acetylcholine and NMDA receptor expression changes in spiral ganglion neurons of the mouse Neuroscience 2014 259 184 93 Search in Google Scholar

23. Lim SJ, Fiez JA, Holt LL. How may the basal ganglia contribute to auditory categorization and speech perception? Front Neurosci. 2014;8:230. LimSJ FiezJA HoltLL How may the basal ganglia contribute to auditory categorization and speech perception? Front Neurosci 2014 8 230 Search in Google Scholar

24. Moon PK, Qian JZ, McKenna E, Xi K, Rowe NC, Ng NN, et al. Cerebral volume and diffusion MRI changes in children with sensorineural hearing loss. Neuroimage Clin. 2020;27:102328. MoonPK QianJZ McKennaE XiK RoweNC NgNN Cerebral volume and diffusion MRI changes in children with sensorineural hearing loss Neuroimage Clin 2020 27 102328 Search in Google Scholar

25. Trinh TT, Blasco H, Maillot F, Bakhos D. Hearing loss in inherited metabolic disorders: A systematic review. Metabolism. 2021;122:154841. TrinhTT BlascoH MaillotF BakhosD Hearing loss in inherited metabolic disorders: A systematic review Metabolism 2021 122 154841 Search in Google Scholar

26. Chen YC, Huang CY, Lee YT, Wu CH, Chang SK, Cheng HL, et al. Audiological and otologic manifestations of glutaric aciduria type I. Orphanet J Rare Dis. 2020;15(1):337. ChenYC HuangCY LeeYT WuCH ChangSK ChengHL Audiological and otologic manifestations of glutaric aciduria type I Orphanet J Rare Dis 2020 15 1 337 Search in Google Scholar

27. Nunes J, Loureiro S, Carvalho S, Pais RP, Alfaiate C, Faria A, et al. Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J. 2013;26(2):155–61. NunesJ LoureiroS CarvalhoS PaisRP AlfaiateC FariaA Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1 Neuroradiol J 2013 26 2 155 61 Search in Google Scholar

28. Tibbetts K, Ead B, Umansky A, Coalson R, Schlaggar BL, Firszt JB, Lieu JE. Interregional brain interactions in children with unilateral hearing loss. Otolaryngol Head Neck Surg. 2011;144(4):602–11. TibbettsK EadB UmanskyA CoalsonR SchlaggarBL FirsztJB LieuJE Interregional brain interactions in children with unilateral hearing loss Otolaryngol Head Neck Surg 2011 144 4 602 11 Search in Google Scholar