GLUT1 deficiency syndrome (GLUT1DS);
Glucose transport defect of the blood-brain barrier

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.

Nervous system disease; Inherited metabolic disease

GLUT1 [HSA:6513] [KO:K07299]

PMID:18708003 (description, gene)

Kayser MA

Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.

Semin Pediatr Neurol 15:127-31 (2008)

PMID:21962875 (description, gene)

Verrotti A, D'Egidio C, Agostinelli S, Gobbi G

Glut1 deficiency: when to suspect and how to diagnose?

Eur J Paediatr Neurol 16:3-9 (2012)

PMID:21382692 (description, gene)

Klepper J

GLUT1 deficiency syndrome in clinical practice.

Epilepsy Res (2011)