ReviewNeurochemistry international2016
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.
Review in Neurochemistry international, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 77 citations in OpenAlex.
- A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.Journal of child neurology · 2021Trial
- Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.JIMD reports · 2026Article
- Central Dysmyelination in SSADH-Deficient Humans and Mice.Annals of clinical and translational neurology · 2025Observational
- The Glutamate/GABA-Glutamine Cycle: Insights, Updates, and Advances.Journal of neurochemistry · 2025Review
- Anesthetic Management of a Pediatric Patient With Succinic Semialdehyde Dehydrogenase Deficiency Undergoing Dental Procedures.Case reports in anesthesiology · 2025Article
- Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.BMC medical genomics · 2024Article
- Article
- Drug-drug interactions between propofol and ART drugs: Inhibiting neuronal activity by affecting glucose metabolism.CNS neuroscience & therapeutics · 2024Article
- Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.Balkan journal of medical genetics : BJMG · 2023Article
- Article
- Glial Glutamine Homeostasis in Health and Disease.Neurochemical research · 2023Review
- Astrocyte metabolism and signaling pathways in the CNS.Frontiers in neuroscience · 2023Review
- Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.Brain communications · 2023Article
- Proteomics reveals differentially regulated pathways when comparing grade 2 and 4 astrocytomas.PloS one · 2023Article
- Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.BMC neuroscience · 2022Article
- The metabolic basis of epilepsy.Nature reviews. Neurology · 2022Review
- Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.Journal of child neurology · 2021Article
- Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.Journal of child neurology · 2021Article
- Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.Journal of child neurology · 2021Article
- Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity.Epilepsy research · 2021Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second step of the GABA degradative pathway. Some 200 patients have been reported, with broad phenotypic and genotypic heterogeneity. SSADHD represents an unusual neurometabolic disorder in which two neuromodulatory agents, GABA (and the GABA analogue, 4-hydroxybutyrate), accumulate to supraphysiological levels. The unexpected occurrence of epilepsy in several patients is counterintuitive in view of the hyperGABAergic state, in which sedation might be expected. However, the epileptic status of some patients is most likely represented by broader imbalances of GABAergic and glutamatergic neurotransmission. Cumulative research encompassing decades of basic and clinical study of SSADHD reveal a monogenic disease with broad pathophysiological and clinical phenotypes. Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm. While seemingly difficult to collate and interpret, these anomalies have continued to open novel pathways for pharmacotherapeutic considerations. Here, we present an update on selected aspects of SSADHD, the ALDH5A1 gene, and future avenues for research on this rare disorder of GABA metabolism.
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