| 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 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 syndromePathway-based classification of diseases [BR:br08402] Cellular process nt06535 Efferocytosis H00836 GLUT1 deficiency syndrome |
| Pathway |
hsa04976 Bile secretionhsa04911 Insulin secretionhsa04922 Glucagon signaling pathwayhsa04920 Adipocytokine signaling pathwayhsa04919 Thyroid hormone signaling pathway |
| Network |
nt06535 Efferocytosis |
| Gene |
GLUT1 [HSA:6513] [KO:K07299] |
| Other DBs |
ICD-11: 5C61.5 8A61.4YICD-10: G93.4MeSH: C536830OMIM: 606777 612126 |
| Reference |
PMID:18708003 |
| 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 |
PMID:21962875 |
| 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 |
PMID:21382692 |
| 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 |
| LinkDB |
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