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 rep...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2017-12-01
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| Series: | Balkan Medical Journal |
| Subjects: | |
| Online Access: | http://balkanmedicaljournal.org/text.php?lang=en&id=1903 |
| Summary: | 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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| ISSN: | 2146-3123 2146-3131 |