Gaba Transaminase Deficiency Presenting as Neonatal Encephalopathy | Chapter 16 | New Frontiers in Medicine and Medical Research Vol. 10

 GABA transaminase insufficiency is a rare condition with only a few examples documented in the literature. We present a newborn who had an epileptic encephalopathy early in life. The recently reported diagnostic criteria and gene sequencing have aided in understanding the metabolic impact and pathophysiology of this very uncommon metabolic encephalopathy. Genetic counselling for future pregnancies may be beneficial to affected families. This baby's mutation (p.Gly106Ser) has never been described before.

Author (S) Details

Oshi Amira
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

Alfaifi Abdullah
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

Z. Seidahmed Mohammed
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

Al Hussein Khalid
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

Miqdad Abeer
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

Samadi Abdelmohsin
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

Abdelbasit Omar
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Saudi Arabia.

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