GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder
- 作者：John M. Graham Jr. ; john.graham@cshs.org ; lisa.downs@cshs.org
- 关键词：Genetic encephalopathy ; GLUT1 deficiency syndrome ; SLC2A1 ; Absence seizures ; Epidodic ataxia/dystonia ; Cognitive disability ; Treatment-resistant epilepsy ; Ketogenic diet
- 刊名：European Journal of Medical Genetics
- 出版年：2012
- 期刊代码：118_17697212
- 类别：med
- 出版时间：May, 2012
- 卷：55
- 期：5
- 页码：332-334
- 文件大小：104 K
摘要
Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C聽>聽A; p.Ser313Try) in SLC2A1 as the cause for her disabilities.