Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. Disease data Classification Disease Synonyms GABA transaminase deficiency Niedobór transaminazy GABA ORPHA code 2066 OMIM code 613163 ICD10 code E72.8 ICD11 code 5C59.1 *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