ArticleCureus2024
An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare genetic condition with approximately 450 patients reported worldwide, inherited in an autosomal recessive manner affecting gamma-aminobutyric acid (GABA) metabolism, characterized by varied clinical features. We report a fetal case of a four-month-old female infant presenting with severe, progressive seizures leading to fatality. Despite aggressive medical interventions, including multiple antiepileptic medications and a ketogenic diet, the patient's condition deteriorated rapidly. Genetic testing revealed a homozygous mutation in the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene. This present case emphasizes the difficulties in controlling SSADH deficiency and emphasizes the necessity for additional studies on successful therapy approaches.
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