Document Detail

Glut1 deficiency syndrome and erythrocyte glucose uptake assay.
MedLine Citation:
PMID:  22190371     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: The Glut1 deficiency syndrome (Glut1 DS) phenotype has expanded dramatically since first described in 1991. Hypoglycorrhachia and decreased erythrocyte 3-OMG uptake are confirmatory laboratory biomarkers. The objective is to expand previous observations regarding the diagnostic value of the uptake assay.
METHODS: One hundred and nine suspected cases of Glut-1 DS were studied. All cases had a consistent clinical picture and hypoglycorrhachia. The uptake assay was decreased in 74 cases (group 1) and normal in 35 cases (group 2). We identified disease-causing mutations in 70 group 1 patients (95%) and one group 2 patient (3%).
RESULTS: The cut-off for an abnormally low uptake value was increased from 60% to 74% with a corresponding sensitivity of 99% and specificity of 100%. The correlation between the uptake values for the time-curve and the kinetic concentration curve were strongly positive (R(2) = 0.85). Significant group differences were found in CSF glucose and lactate values, tone abnormalities, and degree of microcephaly. Group 2 patients were less affected in all domains. We also noted a significant correlation between the mean erythrocyte 3-OMG uptake and clinical severity (R(2) = 0.94).
INTERPRETATION: These findings validate the erythrocyte glucose uptake assay as a confirmatory functional test for Glut1 DS and as a surrogate marker for GLUT1 haploinsufficiency.
Hong Yang; Dong Wang; Kristin Engelstad; Leslie Bagay; Ying Wei; Michael Rotstein; Vimla Aggarwal; Brynn Levy; Lijiang Ma; Wendy K Chung; Darryl C De Vivo
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  70     ISSN:  1531-8249     ISO Abbreviation:  Ann. Neurol.     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-22     Completed Date:  2012-02-09     Revised Date:  2013-04-11    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  996-1005     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 American Neurological Association.
Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA.
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MeSH Terms
Blood Glucose / metabolism*
Child, Preschool
Erythrocytes / metabolism*
Family Health
Glucose Transporter Type 1 / deficiency*,  genetics
Guanosine / analogs & derivatives,  blood,  cerebrospinal fluid
Metabolic Diseases / blood*,  cerebrospinal fluid,  complications,  genetics
Mutation / genetics
ROC Curve
Seizures / etiology
Severity of Illness Index
Statistics as Topic
Grant Support
Reg. No./Substance:
0/Blood Glucose; 0/Glucose Transporter Type 1; 0/SLC2A1 protein, human; 10300-27-3/3'-O-methylguanosine; 118-00-3/Guanosine

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