Disease

Succinic Semialdehyde Dehydrogenase Deficiency

About the Disease
Succinic Semialdehyde Dehydrogenase Deficiency, also known as 4-hydroxybutyric aciduria, is related to gaba aminotransferase deficiency and gaba-transaminase 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 Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and globus pallidus, and related phenotypes are intellectual disability and ataxia

Common Targets
ALDH5A1

疾病靶点研报
Succinic Semialdehyde Dehydrogenase Deficiency

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