GABA transaminase deficiency. Case report and literature review

Abstract

Abstract GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post‐mortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosis of a rare neurometabolic disorder in one of the babies in the family and eventual genetic counselling of the family. The family has been offered pre‐implantation genetic diagnosis for future pregnancies. This case reporting has been approved by the hospital research and ethical committee.

Keywords

• aminobutyrate aminotransferase
• gamma aminobutyric acid
• gamma aminobutyric acid transaminase
• glutamic acid decarboxylase