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A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
Rüya Çolak1, Senem Alkan Özdemir1, Ezgi Yangın Ergon1
1Clinic of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
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.
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