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Akaboshi S., Hogema B.M., Novelletto A., Malaspina P., Salomons G.S., Maropoulos G.D. 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: 442– 450. DOI: 10.1002/humu.10288.AkaboshiS.,HogemaB.M.,NovellettoA.,MalaspinaP.,SalomonsG.S.,MaropoulosG.D.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.,2003,22:442–450. DOI:10.1002/humu.10288.14635103Open DOISearch in Google Scholar
Attri S.V., Singhi P., Wiwattanadittakul N., Goswami N.J., Sankhyan N., Salomons C.S. et al.:Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep., 2016, 34: 111–115. DOI: 10.1007/8904_2016_14. Epub 2016 Nov 5AttriS.V.,SinghiP.,WiwattanadittakulN.,GoswamiN.J.,SankhyanN.,SalomonsC.S.et al.:Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.,2016,34:111–115. DOI:10.1007/8904_2016_14.Epub 2016 Nov 5Open DOISearch in Google Scholar
Brennenstuhl H., Didiasova M., Assmann B., Bertoldi M., Molla G., Jung-Klawitter S. et al.:Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. Int. J. Mol. Sci., 2020, 21: 8578. DOI: 10.3390/ijms21228578BrennenstuhlH.,DidiasovaM.,AssmannB.,BertoldiM.,MollaG.,Jung-KlawitterS.et al.:Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.,2020,21:8578. DOI:10.3390/ijms21228578769615733203024Open DOISearch in Google Scholar
Chambliss K.L., Caudle D.L., Hinson D.D., Moomaw C.R., Slaughter C.A., Jacobs C. et al.:Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. J. Biol. Chem., 1995, 27: 461–467.ChamblissK.L.,CaudleD.L.,HinsonD.D.,MoomawC.R.,SlaughterC.A.,JacobsC.et al.:Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression.,1995,27:461–467.10.1074/jbc.270.1.4617814412Search in Google Scholar
Didiasova M., Banning A., Brennenstuhl H., Jung-Klawitter S., Cinquemani C., Opladen T. et al.: Succinic Semialdehyde Dehydrogenase Deficiency: An Update. Cells, 2020, 9: 477. https://doi.org/10.3390/cells9020477DidiasovaM.,BanningA.,BrennenstuhlH.,Jung-KlawitterS.,CinquemaniC.,OpladenT.et al.: Succinic Semialdehyde Dehydrogenase Deficiency: An Update.,2020,9:477.https://doi.org/10.3390/cells902047710.3390/cells9020477707281732093054Search in Google Scholar
Hogema B.M., Akaboshi S., Taylor M., Salomons G.S., Jakobs C., Schutgens R.B. et al.:Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. Mol. Genet. Metab., 2001, 72: 218–222. DOI: 10.1006/mgme.2000.3145.HogemaB.M.,AkaboshiS.,TaylorM.,SalomonsG.S.,JakobsC.,SchutgensR.B.et al.:Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.,2001,72:218–222. DOI:10.1006/mgme.2000.3145.11243727Open DOISearch in Google Scholar
Lapalme-Remis S., Lewis E.C., De Meulemeester C., Chakraborty P., Gibson K.M., Torres C. et al.:Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology, 2015, 85: 861–865. DOI: 10.1212/ WNL.0000000000001906. Epub 2015 Aug 12.Lapalme-RemisS.,LewisE.C.,De MeulemeesterC.,ChakrabortyP.,GibsonK.M.,TorresC.et al.:Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.,2015,85:861–865. DOI:10.1212/ WNL.0000000000001906.Epub 2015 Aug 12.Open DOISearch in Google Scholar
Lemes A., Blasi P., Gonzales G., Russi E.M., Quadrelli R., Novelletto A. et al.:Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. J. Inherit. Metab. Dis., 2006, 29: 587. DOI: 10.1007/ s10545-006-0277-0. Epub 2006 Jun19LemesA.,BlasiP.,GonzalesG.,RussiE.M.,QuadrelliR.,NovellettoA.et al.:Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.,2006,29:587. DOI:10.1007/ s10545-006-0277-0.Epub 2006 Jun19Open DOISearch in Google Scholar
Leo S., Capo C., Ciminelli B.M., Iacovelli F., Menduti G., Funghini S. et al.:SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. Metab. Brain Dis., 2017, 32: 1383–1388. DOI: 10.1007/s11011-017-0058-5. Epub 2017 Jun 29.LeoS.,CapoC.,CiminelliB.M.,IacovelliF.,MendutiG.,FunghiniS.et al.:SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.,2017,32:1383–1388. DOI:10.1007/s11011-017-0058-5.Epub 2017 Jun 29.Open DOISearch in Google Scholar
Mak J., Cowan T.M., Le A.:Quantitative analysis of underivatized amino acids by Liquid Chromatography-Tandem Mass Spectrometry. Methods Mol. Biol, 2019, 2030: 85–109. DOI: 10.1007/978-1-4939-9639-1_8.MakJ.,CowanT.M.,LeA.:Quantitative analysis of underivatized amino acids by Liquid Chromatography-Tandem Mass Spectrometry.,2019,2030:85–109. DOI:10.1007/978-1-4939-9639-1_8.31347112Open DOISearch in Google Scholar
Malaspina P., Roullet J.B., Pearl P.L., Ainslie G.R., Vogel K.R., Gibson K.M.: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. DOI: 10.1016/j. neuint.2016.06.009. Epub 2016 Jun 14.MalaspinaP.,RoulletJ.B.,PearlP.L.,AinslieG.R.,VogelK.R.,GibsonK.M.:Succinic semialdehyde dehydrogenase deficiency (SSADHD): pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.,2016,99:72–84. DOI:10.1016/j. neuint.2016.06.009.Epub 2016 Jun 14.Open DOISearch in Google Scholar
Menduti G., Biamino E., Vittorini R., Vesco S., Puccinelli M.P., Porta F. et al.:Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. Mol. Genet. Metab., 2018,124: 210–215. DOI: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2.MendutiG.,BiaminoE.,VittoriniR.,VescoS.,PuccinelliM.P.,PortaF.et al.:Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.,2018,124:210–215. DOI:10.1016/j.ymgme.2018.05.006.Epub 2018 Jun 2.Open DOISearch in Google Scholar
Ormazabal A., Garcıa-Cazorla A., Fernandez Y., Fernandez-Alvarez E., Campistol J., Artuch R.:HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J. Neurosci. Methods, 2005,142: 153–158. DOI: 10.1016/j.jneumeth.2004.08.007.OrmazabalA.,Garcıa-CazorlaA.,FernandezY.,Fernandez-AlvarezE.,CampistolJ.,ArtuchR.:HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.,2005,142:153–158. DOI:10.1016/j.jneumeth.2004.08.007.15652629Open DOISearch in Google Scholar
Pearl P.L., Novotny E.J., Acosta M.T., Jakobs C., Gibson K.M.:Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann. Neurol., 2003, 54(Suppl 6): S73–S80. DOI: 10.1002/ana.10629.PearlP.L.,NovotnyE.J.,AcostaM.T.,JakobsC.,GibsonK.M.:Succinic semialdehyde dehydrogenase deficiency in children and adults.,2003,54(Suppl 6):S73–S80. DOI:10.1002/ana.10629.12891657Open DOISearch in Google Scholar
Pearl P.L., Gibson K.M., Cortez M.A., Wu Y., Snead 3rd O.C. et al.:Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J. Inherit. Metab. Dis., 2009, 32: 343–352. DOI: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28.PearlP.L.,GibsonK.M.,CortezM.A.,WuY.,SneadO.C.3rdet al.:Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.,2009,32:343–352. DOI:10.1007/s10545-009-1034-y.Epub 2009 Jan 28.Open DOISearch in Google Scholar
Pearl P.L., Shukla L., Theodore W.H., Jakobs C., Gibson K.M.:Epilepsy in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism. Brain Dev., 2011, 33: 796– 805. doi:10.1016/j.braindev.2011.04.013.PearlP.L.,ShuklaL.,TheodoreW.H.,JakobsC.,GibsonK.M.:Epilepsy in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism.,2011,33:796–805. doi:10.1016/j.braindev.2011.04.013.438539121664777Open DOISearch in Google Scholar
Pearl P.L., Shamin S., Theodore W.H., Gibson K.M., Forester K., Combs S.E. et al.:Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep, 2009, 32: 1645–1648. DOI: 10.1093/sleep/32.12.1645.PearlP.L.,ShaminS.,TheodoreW.H.,GibsonK.M.,ForesterK.,CombsS.E.et al.:Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency.,2009,32:1645–1648. DOI:10.1093/sleep/32.12.1645.278604920041601Open DOISearch in Google Scholar
Rinaldo P.:Organic acids. In: N. Blau, M. Duran, K.M. Gibson (eds.), Laboratory Guide to the Methods in Biochemical Genetics. Springer Verlag, Berlin–Heidelberg 2008, 137–169.RinaldoP.:Organic acids.In:N.Blau,M.Duran,K.M.Gibson(eds.),Springer Verlag,Berlin–Heidelberg2008,137–169.10.1007/978-3-540-76698-8_9Search in Google Scholar
Tanaka K., Hine D.G., WestDull A., Lynn T.B.:Gaschromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds. Clin. Chem., 1980, 26: 1839–1846.TanakaK.,HineD.G.,WestDullA.,LynnT.B.:Gaschromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds.,1980,26:1839–1846.10.1093/clinchem/26.13.1839Search in Google Scholar
Wang P., Cai F., Cao L., Wang Y., Zou Q., Zhao P. et al.:Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency. BMC Medical Genetics, 2019, 20: 88. https://doi.org/10.1186/s12881-019-0821-zWangP.,CaiF.,CaoL.,WangY.,ZouQ.,ZhaoP.et al.:Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.,2019,20:88.https://doi.org/10.1186/s12881-019-0821-z10.1186/s12881-019-0821-z653221731117962Search in Google Scholar