Milder phenotypes of glucose transporter type 1 deficiency syndrome

Authors :: 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.
Source :: Developmental Medicine & Child Neurology, 53, 7, pp. 664-8, Developmental Medicine & Child Neurology, 53, 664-8
Publication Year :: 2011
Abstract: Item does not contain fulltext Glucose 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