| H00836 | |
| H number | H00836 |
| 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 |
| Network | - |
| Gene | GLUT1 [HSA:6513] [KO:K07299] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C61.5 8A61.4Y ICD-10: G93.4 MeSH: C536830 OMIM: 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 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 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 |