Amira, Oshi and Abdullah, Alfaifi and Mohammed, Z. Seidahmed and Khalid, Al Hussein and Abeer, Miqdad and Abdelmohsin, Samadi and Omar, Abdelbasit (2021) Gaba Transaminase Deficiency Presenting as Neonatal Encephalopathy. In: New Frontiers in Medicine and Medical Research Vol. 10. B P International, pp. 136-142. ISBN 978-93-91882-94-5
Full text not available from this repository.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.
| Item Type: | Book Section |
|---|---|
| Subjects: | Euro Archives > Medical Science |
| Depositing User: | Managing Editor |
| Date Deposited: | 08 Dec 2023 03:58 |
| Last Modified: | 08 Dec 2023 03:58 |
| URI: | http://publish7promo.com/id/eprint/3521 |
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