A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.

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.