KEGG   DISEASE: GLUT1 deficiency syndromeHelp
Entry
H00836                      Disease                                

Name
GLUT1 deficiency syndrome;
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00836  GLUT1 deficiency syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C61  Disorders of carbohydrate absorption or transport
     H00836  GLUT1 deficiency syndrome
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H00836  GLUT1 deficiency syndrome
BRITE hierarchy
Pathway
hsa04976  Bile secretion
hsa04920  Adipocytokine signaling pathway
Gene
GLUT1 [HSA:6513] [KO:K07299]
Other DBs
ICD-11: 5C61.5 8A61.4Y
ICD-10: G93.4
MeSH: C536830
OMIM: 606777 612126
Reference
  Authors
Kayser MA
  Title
Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
  Journal
Semin Pediatr Neurol 15:127-31 (2008)
DOI:10.1016/j.spen.2008.05.006
Reference
  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)
DOI:10.1016/j.ejpn.2011.09.005
Reference
  Authors
Klepper J
  Title
GLUT1 deficiency syndrome in clinical practice.
  Journal
Epilepsy Res 100:272-7 (2012)
DOI:10.1016/j.eplepsyres.2011.02.007

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