Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms 4-hydroxybutyric aciduria Niedobór dehydrogenazy semialdehydu bursztynowego Gamma-hydroxybutyric aciduria SSADH deficiency ORPHA code 22 OMIM code 271980 ICD10 code E72.8 ICD11 code 5C50.E1 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl