Succinic semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency
Definition
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Also known as 4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria, SSADH deficiency, succinic semialdehyde dehydrogenase deficiency — per MONDO