KEGG   DISEASE: H00836Help
Entry
H00836                      Disease                                

Name
GLUT1 deficiency syndrome (GLUT1DS);
Glucose transport defect of the blood-brain barrier
Description
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.
Category
Nervous system disease; Inherited metabolic disease
BRITE hierarchy
Pathway
Bile secretion
Adipocytokine signaling pathway
Gene
GLUT1 [HSA:6513] [KO:K07299]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:18708003 (description, gene)
  Authors
Kayser MA
  Title
Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
  Journal
Semin Pediatr Neurol 15:127-31 (2008)
Reference
PMID:21962875 (description, gene)
  Authors
Verrotti A, D'Egidio C, Agostinelli S, Gobbi G
  Title
Glut1 deficiency: when to suspect and how to diagnose?
  Journal
Eur J Paediatr Neurol 16:3-9 (2012)
Reference
PMID:21382692 (description, gene)
  Authors
Klepper J
  Title
GLUT1 deficiency syndrome in clinical practice.
  Journal
Epilepsy Res (2011)

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