SENSORINEURAL HEARING LOSS IN A CHILD WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Parezanović M, Ilić N, Ostojić S, Stevanović G, Ječmenica J, Maver A, Sarajlija A
*Corresponding Author: Adrijan Sarajlija MD, PhD, Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute “Dr Vukan Čupić”, Radoja Dakića 6-8, 11070 Novi Beograd, Serbia; e-mail: adrijans2004@yahoo.com
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REFERENCES

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. 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. 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. 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; 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. 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. 7. Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM. Inherited disorders of gammaaminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev Med Child Neurol. 2015;57(7):611-617. 8. Phakey S, Rego T, Gaillard F, Panetta J, Evans A, De Jong G, et al. OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report. BMC Psychiatry. 2020;20(1):395. 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 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 23. Lim SJ, Fiez JA, Holt LL. How may the basal ganglia contribute to auditory categorization and speech perception? Front Neurosci. 2014;8:230. 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. 25. Trinh TT, Blasco H, Maillot F, Bakhos D. Hearing loss in inherited metabolic disorders: A systematic review. Metabolism. 2021;122:154841. 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. 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. 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.



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