[1]
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. Neurochemistry international. 2016 Oct:99():72-84. doi: 10.1016/j.neuint.2016.06.009. Epub 2016 Jun 14
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[2]
Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R. Succinic Semialdehyde Dehydrogenase Deficiency: An Update. Cells. 2020 Feb 19:9(2):. doi: 10.3390/cells9020477. Epub 2020 Feb 19
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[3]
Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatric neurology. 2010 Apr:42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Epub
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[4]
Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. Journal of inherited metabolic disease. 2009 Jun:32(3):343-52. doi: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28
[PubMed PMID: 19172412]
[5]
Vogel KR, Ainslie GR, Walters DC, McConnell A, Dhamne SC, Rotenberg A, Roullet JB, Gibson KM. Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies. Journal of inherited metabolic disease. 2018 Jul:41(4):699-708. doi: 10.1007/s10545-018-0153-8. Epub 2018 Feb 19
[PubMed PMID: 29460030]
[6]
Sauer SW, Kölker S, Hoffmann GF, Ten Brink HJ, Jakobs C, Gibson KM, Okun JG. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochemistry international. 2007 Mar:50(4):653-9
[PubMed PMID: 17303287]
[7]
Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes. Metabolic brain disease. 2020 Apr:35(4):601-614. doi: 10.1007/s11011-020-00550-1. Epub 2020 Mar 14
[PubMed PMID: 32172518]
[8]
Lee JE, Choi SY, Suk JW, Hong JW, Yoo BK, Choi EY, Jang SH, Park KA, Cho SW. Distribution of succinic semialdehyde reductase in rat brain. Molecules and cells. 1997 Feb 28:7(1):13-20
[PubMed PMID: 9085259]
[9]
Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, Novotny EJ, Gropman A, Conry JA, Berry GT, Tuchman M. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003 May 13:60(9):1413-7
[PubMed PMID: 12743223]
[10]
Pearl PL, Shukla L, Theodore WH, Jakobs C, Michael Gibson K. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain & development. 2011 Oct:33(9):796-805. doi: 10.1016/j.braindev.2011.04.013. Epub 2011 Jun 12
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[11]
Philippe A, Deron J, Geneviève D, de Lonlay P, Gibson KM, Rabier D, Munnich A. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). Developmental medicine and child neurology. 2004 Aug:46(8):564-8
[PubMed PMID: 15287248]
[12]
Yoganathan S, Arunachal G, Kratz L, Varman M, Thomas M, Sudhakar SV, Oommen SP, Danda S. Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency. Annals of Indian Academy of Neurology. 2020 Jan-Feb:23(1):113-117. doi: 10.4103/aian.AIAN_213_18. Epub
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[13]
Wang KY, Barker PB, Lin DD. A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2016 Jul:32(7):1305-9. doi: 10.1007/s00381-015-2942-9. Epub 2015 Oct 24
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Level 3 (low-level) evidence
[14]
Lee WT, Weng WC, Peng SF, Tzen KY. Neuroimaging findings in children with paediatric neurotransmitter diseases. Journal of inherited metabolic disease. 2009 Jun:32(3):361-70. doi: 10.1007/s10545-009-1106-z. Epub 2009 May 20
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Yamakawa Y, Nakazawa T, Ishida A, Saito N, Komatsu M, Matsubara T, Obinata K, Hirose S, Okumura A, Shimizu T. A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency. Brain & development. 2012 Feb:34(2):107-12. doi: 10.1016/j.braindev.2011.05.003. Epub 2011 May 25
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[16]
Ethofer T, Seeger U, Klose U, Erb M, Kardatzki B, Kraft E, Landwehrmeyer GB, Grodd W, Storch A. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. Neurology. 2004 Mar 23:62(6):1016-8
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[17]
Shinka T, Ohfu M, Hirose S, Kuhara T. Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences. 2003 Jul 15:792(1):99-106
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[18]
Vanadia E, Gibson KM, Pearl PL, Trapolino E, Mangano S, Vanadia F. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD reports. 2013:8():133-7. doi: 10.1007/8904_2012_170. Epub 2012 Aug 22
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[19]
Leuzzi V, Di Sabato ML, Deodato F, Rizzo C, Boenzi S, Carducci C, Malaspina P, Liberanome C, Dionisi-Vici C. Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. Neurology. 2007 Apr 17:68(16):1320-1
[PubMed PMID: 17438226]
[20]
Horvath GA, Hukin J, Stockler-Ipsiroglu SG, Aroichane M. Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency. Neuropediatrics. 2016 Aug:47(4):263-7. doi: 10.1055/s-0036-1583183. Epub 2016 Apr 22
[PubMed PMID: 27104484]
[21]
Gibson KM,Gupta M,Pearl PL,Tuchman M,Vezina LG,Snead OC 3rd,Smit LM,Jakobs C, Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biological psychiatry. 2003 Oct 1
[PubMed PMID: 14512218]
[22]
Nagappa M, Bindu PS, Chiplunkar S, Govindaraj P, Narayanappa G, Krishnan A, Bharath MM, Swaminathan A, Saini J, Arvinda HR, Sinha S, Mathuranath PS, Taly AB. Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. Brain & development. 2017 Feb:39(2):161-165. doi: 10.1016/j.braindev.2016.08.005. Epub 2016 Sep 3
[PubMed PMID: 27596361]
[23]
Sharawat IK, Saini L, Singanamala B, Saini AG, Sahu JK, Attri SV, Sankhyan N. Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients. Brain & development. 2020 Feb:42(2):157-164. doi: 10.1016/j.braindev.2019.11.003. Epub 2019 Dec 2
[PubMed PMID: 31806255]
[24]
DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL. Age-related phenotype and biomarker changes in SSADH deficiency. Annals of clinical and translational neurology. 2019 Jan:6(1):114-120. doi: 10.1002/acn3.696. Epub 2018 Dec 3
[PubMed PMID: 30656189]