ArticleJIMD reports2017
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolism · 2024Article
- Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2024Article
- Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.Journal of neurodevelopmental disorders · 2024Article
- Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.Human genetics · 2023Article
- Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.Balkan journal of medical genetics : BJMG · 2023Article
- 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
- Stroke-like Episodes in Inherited Neurometabolic Disorders.Metabolites · 2022Review
- Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.Metabolic brain disease · 2021Review
- Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.Clinical case reports · 2021Article
- Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.JIMD reports · 2020Article
- Review
- Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.BMC medical genetics · 2019Article
- In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.PloS one · 2017Article
- Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
Abstract
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity. Gamma-hydroxybutyric aciduria and homozygous ALDH5A1 c.608C>T; p.Pro203Leu mutations were confirmed. Identification of all available individual cases with clinical details available including geographic or ethnic origin revealed 182 patients from 40 countries, with the largest number of patients reported from the USA (24%), Turkey (10%), China (7%), Saudi Arabia (6%), and Germany (5%). This study provides an accounting of all published cases of confirmed SSADH deficiency and provides data useful in planning further studies of this rare inborn error of metabolism.
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Registered trials
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