has material basis in germline mutation in ALDH5A1 gamma-amino butyric acid metabolism disorder succinic semialdehyde dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency https://www.malacards.org/card/succinic_semialdehyde_dehydrogenase_deficiency NANDO:2200599 gamma-hydroxybutyricaciduria NORD:1904 SSADHD UMLS:C0268631 gamma-hydroxybutyric aciduria MEDGEN:124340 MESH:C535803 SSADH deficiency DOID:0060175 MONDO:0010083 OMIM:271980 GARD:0007695 GABA metabolic defect SCTID:49748000 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. 4-hydroxybutyric aciduria succinic semialdehyde dehydrogenase deficiency Ssadh deficiency Orphanet:22