Milder phenotypes of glucose transporter type 1 deficiency syndrome
- Anand, G.
- Padeniya, A.
- Hanrahan, D.
- Scheffer, H.
- Zaiwalla, Z.
- Cox, D.
- Mann, N.
- Hewertson, J.
- Price, S.
- Nemeth, A.
- Arsov, T.
- Scheffer, I.
- Jayawant, S.
- Pike, M.
- McShane, T.
DOIAbstract
Item does not contain fulltextGlucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2 mmol/l) in the presence of normoglycaemia with a CSF/blood glucose ratio of less than 0.4. GLUT1DS is due to a mutation in the solute carrier family 2, member 1 gene (SLC2A1). We present five individuals (four males, one female), all of whom had a mild phenotype, h...
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