ArticleJIMD reports2012
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.
Article in JIMD reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- The Role of GABA Pathway Components in Pathogenesis of Neurodevelopmental Disorders.International journal of molecular sciences · 2025Review
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolism · 2024Article
- ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.Neurobiology of disease · 2024Article
- Article
- Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.Neurochemistry international · 2016Review
- Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.Developmental medicine and child neurology · 2015Review
- Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.Journal of pediatric epilepsy · 2014Article
- Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Journal of inherited metabolic disease · 2013Review
- Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.Annals of Indian Academy of NeurologyArticle
- Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a patient with succinic semialdehyde dehydrogenase deficiency who presented a mild phenotype including developmental language delay, in association with the typical elevations of 4-hydroxybutyric acid (GHB) in biological fluids and MRI alterations. Two pathogenic mutations were identified one transversion (c.278 G>T) in exon 1 and another (c.1557 T>G) in exon 10. Both parents are carriers of one of the mutations, confirming compound-heterozygosity in their affected child. To reduce the GHB levels in body fluids, a treatment with vigabatrin at low dose (25 mg/kg per day) was started, monitoring its efficacy by clinical and neurochemical follow-up. After 9 months of therapy with vigabatrin, a significant reduction of GHB concentrations in urine and CSF was observed; after 36 months, a significant improvement of communicative skills, not previously reported, was referred. These results support the hypothesis that the clinical improvement is correlated to the reduction in the GHB levels and the importance of considering the SSADH deficiency in the differential diagnosis of patients with mental retardation and language delay.
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Registered trials
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.