Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

Succinic Semialdehyde Dehydrogenase Deficiency, also known as gamma-hydroxybutyric aciduria, is related to gaba-transaminase deficiency and gaba aminotransferase deficiency, and has symptoms including ataxia, seizures and absence seizures. An important gene associated with Succinic Semialdehyde Dehydrogenase Deficiency is ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs SGS-742 and Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and ataxia