Open AccessGABA transaminase deficiency. Case report and literature review
Author(s) -
Oshi Amira,
Alfaifi Abdullah,
Seidahmed Mohammed Z.,
Al Hussein Khalid,
Miqdad Abeer,
Samadi Abdelmohsin,
Abdelbasit Omar
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3753
Subject(s) - medicine , pediatrics , differential diagnosis , medical diagnosis , psychiatry , genetic counseling , genetic testing , intensive care medicine , pathology , genetics , biology
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.