GLUT1 deficiency syndrome

Definition:

GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding the GLUT1 transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly.

References:

[1]. A Verrotti, et al. Glut1 deficiency: when to suspect and how to diagnose?. Eur J Paediatr Neurol. 2012 Jan;16(1):3-9. [Content Brief]

[2]. Joerg Klepper, et al. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 2012 Jul;100(3):272-7. [Content Brief]

[3]. Michael A Kayser, et al. Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. Semin Pediatr Neurol. 2008 Sep;15(3):127-31. [Content Brief]

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