Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare metabolic disorder resulting from bi-allelic pathogenic variants of the ALDH5A1 gene. SSADHD alters γ-aminobutyric acid (GABA) degradation, leading to accumulation of GABA and related metabolites, including γ-hydroxybutyrate (GHB) [1,2].
3
AGO
AGO
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