谷氨酸 1 缺乏症中 SLC2A1 基因的另一种突变：c.734A>C。
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
机构信息
Clinic of Neonatology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
Clinic of Pediatric Metabolism, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
出版信息
Balkan Med J. 2017 Dec 1;34(6):580-583. doi: 10.4274/balkanmedj.2016.1376. Epub 2017 Apr 13.
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.
背景
葡萄糖转运蛋白 1 缺乏综合征是由于葡萄糖向大脑转运受损导致的。葡萄糖转运蛋白 1 综合征患者可能表现为婴儿癫痫发作、发育迟缓、获得性小头畸形、痉挛和共济失调。
病例报告
在此，我们报告了一例罕见的葡萄糖转运蛋白 1 缺乏综合征病例，该病例由 10 天大的新生儿携带的不同致病性变异引起，该新生儿表现为难治性癫痫发作和呼吸暂停。
结论
这种新的致病性变异可见于葡萄糖转运蛋白 1 缺乏综合征。
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