GABA transaminase deficiency. Case report and literature review

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.

Automated summary

GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies, highlighting the importance of early diagnosis. This case study successfully diagnosed a rare neurometabolic disorder in a family member, leading to genetic counseling and offering pre-implantation genetic diagnosis for future pregnancies. The reporting of this case has been approved by the hospital research and ethical committee.