Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
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DOI: 10.1016/j.ymgme.2020.04.004
Abstract: Deficiency of succinate semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5a1 (ALDH5A1), OMIM 271980, 610045), the second enzyme of GABA degradation, represents a rare autosomal-recessively inherited disorder which manifests metabolically as gamma-hydroxybutyric aciduria. The neurological phenotype includes… read more here.
Keywords: dehydrogenase; missense variants; semialdehyde dehydrogenase; aldh5a1 gene ... See more keywords