Milder phenotypes of glucose transporter type 1 deficiency syndrome

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 abs...

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Bibliographic Details
Published in:Developmental medicine and child neurology 2011-07, Vol.53 (7), p.664-668
Main Authors: ANAND, GEETHA, PADENIYA, ANURUDDHA, HANRAHAN, DONNCHA, SCHEFFER, HANS, ZAIWALLA, ZENOBIA, COX, DEBBIE, MANN, NICHOLAS, HEWERTSON, JOHN, PRICE, SUE, NEMETH, ANDREA, ARSOV, TODOR, SCHEFFER, INGRID, JAYAWANT, SANDEEP, PIKE, MICHAEL, MCSHANE, TONY
Format: Article
Language:English
Subjects:
Adolescent
Carbohydrate Metabolism, Inborn Errors - cerebrospinal fluid
Carbohydrate Metabolism, Inborn Errors - diagnosis
Carbohydrate Metabolism, Inborn Errors - genetics
Carbohydrate Metabolism, Inborn Errors - physiopathology
Child
Child, Preschool
Diagnosis, Differential
Dystonia - genetics
Epilepsy, Absence - genetics
Female
Gait
Glucose - cerebrospinal fluid
Glucose Transporter Type 1 - genetics
Humans
Male
Monosaccharide Transport Proteins - cerebrospinal fluid
Monosaccharide Transport Proteins - deficiency
Monosaccharide Transport Proteins - genetics
Motor Activity
Mutation
Phenotype
Severity of Illness Index
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Description
Summary: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
ISSN:0012-1622
1469-8749
DOI:10.1111/j.1469-8749.2011.03949.x