ISSN : 2146-3123
E-ISSN : 2146-3131

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
Rüya Çolak1, Senem Alkan Özdemir1, Ezgi Yangın Ergon1, Mehtap Kağnıcı2, Şebnem Çalkavur1
1Clinic of Neonatology, Dr. Behçet Uz Children’s Hospital, İzmir, Turkey
2Clinic of Pediatric Metabolism, Dr. Behçet Uz Children’s Hospital, İzmir, Turkey
DOI : 10.4274/balkanmedj.2016.1376

Background: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia.
Case Report: Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest.
Conclusion: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome.

Keywords : Glut 1 deficiency syndrome, neonatal seizures, mutation
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