Article

Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility

2026-03-26

Abstract excerpt

<h4>ABSTRACT</h4> Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive metabolic disorder due to loss-of-function ALDH5A1 mutations impairing the catabolism of γ-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain. In SSADHD, pathologic accumulation of GABA and its metabolic by-product γ-hydroxybutyrate (GHB) corresponds to a clinical syndrome dominated b...

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Literature Corpus work: 669e245b-bb74-5d90-89b9-6729c5f8845c
DOI: 10.64898/2026.03.24.713250

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