ArticleExperimental neurology2008
A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype.
Article in Experimental neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 60 citations in OpenAlex.
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolism · 2024Article
- A 1-month ketogenic diet in patients with migraine gives a clinical beneficial effect associated with increased latency of somatosensory thalamo-cortical activity.Clinical neurophysiology practice · 2024Article
- Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.Frontiers in genetics · 2024Article
- Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.International journal of molecular sciences · 2022Review
- Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.Journal of child neurology · 2021Article
- Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.JIMD reports · 2020Article
- Review
- Microbiota Manipulation as a Metagenomic Therapeutic Approach for Rare Inherited Metabolic Disorders.Clinical pharmacology and therapeutics · 2019Article
- A ketogenic diet normalizes interictal cortical but not subcortical responsivity in migraineurs.BMC neurology · 2019Article
- Metabolism and epilepsy: Ketogenic diets as a homeostatic link.Brain research · 2019Review
- 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.Frontiers in neuroscience · 2019Article
- Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.Journal of inherited metabolic disease · 2018Review
- The Antiepileptic Ketogenic Diet Alters Hippocampal Transporter Levels and Reduces Adiposity in Aged Rats.The journals of gerontology. Series A, Biological sciences and medical sciences · 2018Article
- Metabolic Dysfunction Underlying Autism Spectrum Disorder and Potential Treatment Approaches.Frontiers in molecular neuroscience · 2017Review
- mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Journal of inherited metabolic disease · 2016Article
- Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.Neurochemistry international · 2016Review
- Ketogenic diet treatment increases longevity in Kcna1-null mice, a model of sudden unexpected death in epilepsy.Epilepsia · 2016Article
- Cortical functional correlates of responsiveness to short-lasting preventive intervention with ketogenic diet in migraine: a multimodal evoked potentials study.The journal of headache and pain · 2016Article
- Ketogenic diets in patients with inherited metabolic disorders.Journal of inherited metabolic disease · 2015Review
- Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.Developmental medicine and child neurology · 2015Review
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a heritable disorder of GABA degradation characterized by ataxia, psychomotor retardation and seizures. To date, there is no effective treatment for SSADH deficiency. We tested the hypothesis that a ketogenic diet (KD) would improve outcome in an animal model of SSADH deficiency, the SSADH knockout mouse (Aldh5a1-/-). Using a 4:1 ratio of fat to combined carbohydrate and protein KD we set out to compare the general phenotype, in vivo and in vitro electrophysiology and [35S]TBPS binding in both Aldh5a1-/- mice and control (Aldh5a1+/+) mice. We found that the KD prolonged the lifespan of mutant mice by >300% with normalization of ataxia, weight gain and EEG compared to mutants fed a control diet. Aldh5a1-/- mice showed significantly reduced mIPSC frequency in CA1 hippocampal neurons as well as significantly decreased [35S]TBPS binding in all brain areas examined. In KD fed mutants, mIPSC activity normalized and [35S]TBPS binding was restored in the cortex and hippocampus. The KD appears to reverse toward normal the perturbations seen in Aldh5a1-/- mice. Our data suggest that the KD may work in this model by restoring GABAergic inhibition. These data demonstrate a successful experimental treatment for murine SSADH deficiency using a KD, giving promise to the idea that the KD may be successful in the clinical treatment of SSADH deficiency.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.