Martin K, McConnell A, Elsea SH. Assessing prevalence and carrier frequency of Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021;36:1218–22.

Article  PubMed  Google Scholar 

Jakobs C, Bojasch M, Mönch 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;111:169–78.

Article  CAS  PubMed  Google Scholar 

Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997;99:567–74.

Article  CAS  PubMed  Google Scholar 

Rahbeeni Z, Ozand P, Rashed M, Gascon G, Al Nasser M, Al Odaib A, Amoudi M, Nester M, Al Garawi S, Brismar J. 4-Hydroxybutyric aciduria. Brain Dev. 1994;16:64–71.

Article  PubMed  Google Scholar 

Pattarelli PP, Nyhan WL, Gibson KM. Oxidation of [U-14 C] succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria. Pediatr Res. 1988;24:455–60.

Article  CAS  PubMed  Google Scholar 

Gibson K, Hoffmann G, Nyhan W, Aramaki S, Thompson J, Goodman S, Johnson D, Fife R. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions. Eur J Pediatr. 1988;147:529–31.

Article  CAS  PubMed  Google Scholar 

Haan E, Brown G, Mitchell D, Danks D. Succinic semialdehyde dehydrogenase deficiency—a further case. J Inherit Metab Dis. 1985;8:99.

Article  CAS  PubMed  Google Scholar 

Gibson K, Sweetman L, Nyhan W, Bowen P. Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. J Inherit Metab Dis. 1985;8:58.

Article  CAS  PubMed  Google Scholar 

Gibson K, Sweetman L, Nyhan W, Rating D. Succinic semialdehyde dehydrogenase deficiency. J Neurogenet. 1984;1:213–8.

Article  CAS  PubMed  Google Scholar 

Rating D, Hanefeld F, Siemes H, Jakobs C, Kneer J, Hermier M, Divry P. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review. Organic Acidurias: Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease (1984): Springer; 1984;7:90 – 2.

Gibson K, Jansen I, Sweetman L, Nyhan W, Rating D, Jakobs C, Divry P. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance. Organic Acidurias: Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease (1984): Springer; 1984;7:95 – 6.

Gibson KM, Sweetman L, Nyhan WL, Jakobs C, Rating D, Siemes H, Hanefeld F. Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta. 1983;133:33–42.

Article  CAS  PubMed  Google Scholar 

Divry P, Baltassat P, Rolland M, Cotte J, Hermier M, Duran M, Wadman S. A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism. Clin Chim Acta. 1983;129:303–9.

Article  CAS  PubMed  Google Scholar 

Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998;63:399–408.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM. 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;22:442–50.

Article  CAS  PubMed  Google Scholar 

Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2020;130:172–8.

Article  CAS  PubMed  Google Scholar 

DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL. Novel ALDH5A1 variants and genotype: phenotype correlation in SSADH deficiency. Neurology. 2020;95:e2675–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hogema BM, Gupta M, Senephansiri H, Burlingame TG, Taylor M, Jakobs C, Schutgens RB, Froestl W, Snead OC, Diaz-Arrastia R, Bottiglieri T, Grompe M, Gibson KM. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001;29:212–6.

Article  CAS  PubMed  Google Scholar 

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;57:611–7.

Article  PubMed  Google Scholar 

Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, Kimura M, Yamaguchi S, Watanabe K, Shimokata K, Niwa T. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene. Hum Hered. 2002;53:42–4.

Article  CAS  PubMed  Google Scholar 

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.

Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julia-Palacios N, Gibson KM, Bertoldi M, Pearl PL. Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. Res Sq 2023.

Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol. 2010;42:255–8.

Article  PubMed  PubMed Central  Google Scholar 

Afacan O, Yang E, Lin AP, Coello E, DiBacco ML, Pearl PL, Warfield SK, Consortium SDI. Magnetic Resonance Imaging (MRI) and spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021;36:1162–8.

Article  PubMed  Google Scholar 

Tokatly Latzer I, Yang E, Afacan O, Arning E, Rotenberg A, Lee HHC, Roullet JB, Pearl PL. Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency. J Sleep Res 2023: e14105.

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;60:1413–7.

Article  CAS  PubMed  Google Scholar 

Lee HHC, Pearl PL, Rotenberg A. Enzyme replacement therapy for Succinic Semialdehyde Dehydrogenase Deficiency: relevance in γ-Aminobutyric acid plasticity. J Child Neurol. 2021;36:1200–9.

Article  PubMed  Google Scholar 

Pearl PL, DiBacco ML, Papadelis C, Opladen T, Hanson E, Roullet JB, Gibson KM. Succinic Semialdehyde Dehydrogenase Deficiency: review of the natural history study. J Child Neurol. 2021;36:1153–61.

Article  PubMed  Google Scholar 

DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019;6:114–20.

Article  CAS  PubMed  Google Scholar 

Beran TN, Elliott CD. (2007). Differential Ability Scales (2nd ed.). San Antonio, TX: Harcourt Assessment. Canadian Journal of School Psychology. 2007;22:128 – 32.

Wechsler D. Wechsler abbreviated scale of intelligence. 1999.

Mullen EM. Mullen scales of early learning. AGS Circle Pines, MN; 1995.

Sparrow SS, Cicchetti DV, Balla DA. Vineland Adaptive Behavior scales:(VABS). NCS Pearson; 2005.

Bzoch KR, League R, Brown V. REEL 3: receptive-expressive Emergent Language Test. Pro-Ed; 2003.

Lord C, Rutter M, DiLavore P, Risi S, Gotham K, Bishop S. Autism diagnostic observation schedule, (ADOS-2) Torrance. CA: Western Psychol Serv 2012.

Henderson SE, Sugden D, Barnett AL. Movement assessment battery for children-2. Res Dev Disabil. 1992.

Achenbach TM, Rescorla LA. Manual for the ASEBA school-age forms & profiles: an integrated system of multi-informant assessment Burlington, VT: University of Vermont. Res Cent Child Youth Families 2001; 1617.

Achenbach TM, Rescorla LA. Child behavior checklist for ages 1 1/2–5 ASEBA. University of Vermont Burlington, VT; 2000.

Achenbach TM, Rescorla L. ASEBA adult forms & profiles: for ages 18–59: adult self-report and adult behavior checklist. Aseba; 2003.

Owens JA, Spirito A, McGuinn M. The children’s Sleep habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children. Sleep. 2000;23:1043–51.

Article  CAS  PubMed  Google Scholar 

Arning E, Wasek B, Bottiglieri T. Quantitation of γ-Aminobutyric acid in Cerebrospinal Fluid using Liquid Chromatography-Electrospray-Tandem Mass Spectrometry. Clinical applications of Mass Spectrometry in Biomolecular Analysis. Springer; 2022. 165 – 74.

Tsuboyama M, Kaye HL, Rotenberg A. Review of Transcranial Magnetic Stimulation in Epilepsy. Clin Ther. 2020;42:1155–68.

Article  CAS  PubMed  Google Scholar 

Peek A, Rebbeck T, Leaver A, Puts N, Foster S, Refshauge K, Oeltzschner G, Panel ME. A Comprehensive Guide to Mega-Press for Gaba Measurement. medRxiv 2021:2021.11.24.21266827.

Duncan NW, Zhang J, Northoff G, Weng X. Investigating GABA concentrations measured with macromolecule suppressed and unsuppressed MEGA-PRESS MR spectroscopy and their relationship with BOLD responses in the occipital cortex. J Magn Reson Imaging. 2019;50:1285–94.

Article  PubMed  Google Scholar 

Costigan AG, Umla-Runge K, Evans CJ, Hodgetts CJ, Lawrence AD, Graham KS. Neurochemical correlates of scene processing in the precuneus/posterior cingulate cortex: a multimodal fMRI and 1H‐MRS study. Hum Brain Mapp. 2019;40:2884–98.

Article  PubMed  PubMed Central  Google Scholar 

Provencher SW. February. LCModel & LCMgui User’s Manual Version 6.3-1R. http://s-provencher.com/pub/LCModel/manual/manual.pdf (Accessed 2023.

Kim YG, Lee S, Kwon OS, Park SY, Lee SJ, Park BJ, Kim KJ. Redox-switch modulation of human SSADH by dynamic catalytic loop. EMBO J. 2009;28:959–68.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sehnal D, Bittrich S, Deshpande M, Svobodova R, Berka K, Bazgier V, Velankar S, Burley SK, Koca J, Rose AS. Mol* viewer: modern web app for 3D visualization and analysis of large biomolecular structures. Nucleic Acids Res. 2021;49:W431–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quadros RM, Miura H, Harms DW, Akatsuka H, Sato T, Aida T, Redder R, Richardson GP, Inagaki Y, Sakai D, Buckley SM, Seshacharyulu P, Batra SK, Behlke MA, Zeiner SA, Jacobi AM, Izu Y, Thoreson WB, Urness LD, Mansour SL, Ohtsuka M, Gurumurthy CB. Easi-CRISPR: a robust method for one-step generation of mice carrying conditional and insertion alleles using long ssDNA donors and CRISPR ribonucleoproteins. Genome Biol. 2017;18:92.

Article  PubMed  PubMed Central