Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency

ABSTRACT GABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene. We report a case of a newborn female born to a G10P5 mother,...

Descripció completa

Dades bibliogràfiques

Autors principals:	Deima Alammary, Tisiana Low, Ganesh Srinivasan, Marie‐Claude Dery, Mahmoud Almutadares, Samantha Marin, Mubeen F. Rafay, Katya Rozovsky, Patrick Frosk
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2026-01-01
Col·lecció:	JIMD Reports
Matèries:	burst suppression founder mutation GABA transaminase deficiency neonatal encephalopathy urine GABA quantification
Accés en línia:	https://doi.org/10.1002/jmd2.70069
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!