Syndrom GLUT-1 deficience – expandující klinické spektrum léčitelného onemocnění
| Title in English | Glucose transporter-1 deficiency syndrome - expanding the clinical spectrum of a treatable disorder |
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| Authors | |
| Year of publication | 2018 |
| Type | Article in Periodical |
| Magazine / Source | Česká a slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Doi | http://dx.doi.org/10.14735/amcsnn2018171 |
| Keywords | GLUT-1 deficiency syndrome; pharmacore-sistant epilepsy; SLC2A1 gene; ketogenic diet; spectrum of the phenotype |
| Description | Glucose transporter-1 deficiency syndrome (GLUT1DS) is a relatively rare form of treatable epileptic encephalopathy caused by impaired glucose transport across the blood-brain barrier associated with the mutation in the SLC2A1 gene. The disorder has a very variable phenotype. The phenotypic spectrum of GLUT1DS is now known to be a continuum that includes the classic phenotype as well as dystonia 9 and 18, atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic abnormalities of movement such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by pharmacoresistant infantile-onset seizures, delayed neurologic development, and acquired microcephaly. Non-classical phenotype is characterised by complex movement disorder without epilepsy (hypotonia, spasticity, ataxia and dystonia). Adult form with mild symptoms rarely occurs. In suspicion of GLUT1DS, the lumbar puncture should be provided. The disease hallmark is hypoglycorrhachia in association with normoglycemia. The CSF/blood glucose ratio is typically less than 0.4. Final confirmation of the diagnosis is the detection of the mutation in the SLC2A1 gene. GLUT1DS is treatable disorder. Ketogenic diet is the treatment of choice. Early diagnosis is crucial, because treatment with the ketogenic diet dramatically improves the symptoms and may also improve the long-term outcome of the patients. |
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