Research & Literature

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Li X, Ding Y, Liu Y, et al.

Gene 2015; (574(1)):41-7.

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Lapalme-Remis S, Lewis EC, De Meulemeester C, et al.

Neurology 2015; (85(10)):861-5 doi:10.1212/WNL.0000000000001906.

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Akiyama T, Osaka H, Shimbo H, et al.

Brain & development 2016; (38(9)):871-4.

Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.

Horvath GA, Hukin J, Stockler-Ipsiroglu SG, Aroichane M

Neuropediatrics 2016; (47(4)):263-7 doi:10.1055/s-0036-1583183.

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Zeiger WA, Sun LR, Bosemani T, et al.

Pediatric neurology 2016; (58()):113-5.

Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.

Schreiber JM, Pearl PL, Dustin I, et al.

JIMD reports 2016; (30()):81-87 doi:10.1007/8904_2015_524.

mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Vogel KR, Ainslie GR, Gibson KM

Journal of inherited metabolic disease 2016; (39(6)):877-886 doi:10.1007/s10545-016-9959-4.

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Jansen EE, Vogel KR, Salomons GS, et al.

Journal of inherited metabolic disease 2016; (39(6)):795-800 doi:10.1007/s10545-016-9980-7.

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Vogel KR, Ainslie GR, Jansen EE, et al.

Biochimica et biophysica acta. Molecular basis of disease 2017; (1863(1)):33-42 doi:10.1016/j.bbadis.2016.10.009.

In vitro toxicological evaluation of NCS-382, a high-affinity antagonist of γ-hydroxybutyrate (GHB) binding.

Vogel KR, Ainslie GR, Roullet JB, et al.

Toxicology in vitro : an international journal published in association with BIBRA 2017; (40()):196-202 doi:10.1016/j.tiv.2017.01.013.

[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].

Shu J, Cai F, Fan W, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017; (34(1)):6-9 doi:10.3760/cma.j.issn.1003-9406.2017.01.002.

SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.

Leo S, Capo C, Ciminelli BM, et al.

Metabolic brain disease 2017; (32(5)):1383-1388 doi:10.1007/s11011-017-0058-5.

Age-related phenotype and biomarker changes in SSADH deficiency.

DiBacco ML, Roullet JB, Kapur K, et al.

Annals of clinical and translational neurology 2019; (6(1)):114-120 doi:10.1002/acn3.696.

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.

Wang P, Cai F, Cao L, et al.

BMC medical genetics 2019; (20(1)):88 doi:10.1186/s12881-019-0821-z.

Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.

Brown M, Ashcraft P, Arning E, et al.

Molecular genetics and metabolism 2019; (128(1-2)):109-112 doi:10.1016/j.ymgme.2019.07.010.

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Yoganathan S, Arunachal G, Kratz L, et al.

Annals of Indian Academy of Neurology 2020; (23(1)):113-117 doi:10.4103/aian.AIAN_213_18.

Succinic Semialdehyde Dehydrogenase Deficiency: An Update.

Didiášová M, Banning A, Brennenstuhl H, et al.

Cells 2020; (9(2)) doi:10.3390/cells9020477.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Pop A, Smith DEC, Kirby T, et al.

Molecular genetics and metabolism 2020; (130(3)):172-178 doi:10.1016/j.ymgme.2020.04.004.

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report.

Phakey S, Rego T, Gaillard F, et al.

BMC psychiatry 2020; (20(1)):395 doi:10.1186/s12888-020-02794-8.

The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review.

Colijn MA

Psychiatric genetics 2020; (30(6)):153-161 doi:10.1097/YPG.0000000000000264.

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

Pearl PL, DiBacco ML, Papadelis C, et al.

Journal of child neurology 2021; (36(13-14)):1153-1161 doi:10.1177/0883073820981262.

Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.

Lee HHC, Pearl PL, Rotenberg A

Journal of child neurology 2021; (36(13-14)):1200-1209 doi:10.1177/0883073821993000.

A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.

Schreiber JM, Wiggs E, Cuento R, et al.

Journal of child neurology 2021; (36(13-14)):1189-1199 doi:10.1177/08830738211012804.

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.

Martin K, McConnell A, Elsea SH

Journal of child neurology 2021; (36(13-14)):1218-1222 doi:10.1177/08830738211018902.

Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD).

Kirby TO, Shi X, Walters D, et al.

Molecular genetics and metabolism 2022; (135(1)):42-46 doi:10.1016/j.ymgme.2021.11.355.

The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I, Bertoldi M, DiBacco ML, et al.

Epilepsia 2023; (64(6)):1516-1526 doi:10.1111/epi.17592.

Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I, Roullet JB, Gibson KM, Pearl PL

Journal of inherited metabolic disease 2023; (46(5)):992-1003 doi:10.1002/jimd.12635.

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I, Bertoldi M, Blau N, et al.

Molecular genetics and metabolism 2024; (142(1)):108363 doi:10.1016/j.ymgme.2024.108363.

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, et al.

Journal of inherited metabolic disease 2024; (47(3)):447-462 doi:10.1002/jimd.12723.

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.

Tokatly Latzer I, Roullet JB, Afshar-Saber W, et al.

Journal of neurodevelopmental disorders 2024; (16(1)):21 doi:10.1186/s11689-024-09538-9.

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Glinton KE, Gijavanekar C, Rajagopal A, et al.

Frontiers in genetics 2024; (15()):1405468 doi:10.3389/fgene.2024.1405468.

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.

Tokatly Latzer I, Hanson E, Bertoldi M, et al.

Molecular genetics and metabolism 2025; (144(3)):109051 doi:10.1016/j.ymgme.2025.109051.

Central Dysmyelination in SSADH-Deficient Humans and Mice.

Tokatly Latzer I, Lee HHC, Yang E, et al.

Annals of clinical and translational neurology 2025; (12(11)):2193-2205 doi:10.1002/acn3.70148.

Severe epilepsy phenotypes in adults with succinic semialdehyde dehydrogenase deficiency: Novel clinical and therapeutic insights from an Italian multicenter retrospective cohort study.

Canafoglia L, Mastrangelo M, Russo M, et al.

Seizure 2025; (131()):252-256 doi:10.1016/j.seizure.2025.07.018.

Anesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.

Savaş Z

Case reports in anesthesiology 2025; (2025()):3794766 doi:10.1155/cria/3794766.

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Kiss S, Leventer RJ, Duff C, et al.

JIMD reports 2026; (67(2)):e70071 doi:10.1002/jmd2.70071.

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.

Skinner OS, Miranda M, Dong F, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.02.10.705117.

Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility.

Lee HHC, McGinty G, Liebhardt A, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.03.24.713250.

Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.

Yan D, Liu X, Gu C, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Hyperactive Delirium Temporally Associated With Hydroxyzine in a Child With Succinic Semialdehyde Dehydrogenase Deficiency Presenting With Psychotic Symptoms: A Case Report.

Yilanli M, Olexa C, Zapanta B

Case reports in psychiatry 2026; (2026()):3543154 doi:10.1155/crps/3543154.