Gaba Transaminase Deficiency Presenting as Neonatal Encephalopathy

Authors

  • 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.

DOI:

https://doi.org/10.9734/bpi/nfmmr/v10/4013F

Keywords:

Aminobutyrate aminotransferase (ABAT), Gamma Aminobutyric Acid (GABA), Gamma Aminobutyric Acid Transaminase (GABA-T), Glutamic Acid Decarboxylase (GAD)

Abstract

Gama-aminobutyric (GABA) transaminase deficiency is a rare disorder with only few cases described in the literature. We present here a neonate who presented early with an epileptic encephalopathy. The recently described diagnostic criteria and gene sequencing are now the backbone for diagnosing this severe rare metabolic encephalopathy and has helped in understanding its metabolic effects and the pathophysiology. Affected families can benefit from genetic counseling for their future pregnancies. The variant in this baby (p.Gly106Ser) has not been described before.

Published

2021-08-25

How to Cite

Oshi Amira, Alfaifi Abdullah, Z. Seidahmed Mohammed, Al Hussein Khalid, Miqdad Abeer, Samadi Abdelmohsin, & Abdelbasit Omar. (2021). Gaba Transaminase Deficiency Presenting as Neonatal Encephalopathy. New Frontiers in Medicine and Medical Research Vol. 10, 136–142. https://doi.org/10.9734/bpi/nfmmr/v10/4013F

Issue

New Frontiers in Medicine and Medical Research Vol. 10

Section

Chapters