ArticleAnnals of Indian Academy of Neurology
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.JIMD reports · 2026Article
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolism · 2024Article
- Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.Frontiers in genetics · 2024Article
- 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 or Ischemic Stroke in Succinic Semi-aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT inAnnals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
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Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybutyric acid and the identification of biallelic pathogenic variants in aldehyde dehydrogenase 5 family, member A 1 (
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