| Glut1 deficiency syndrome and erythrocyte glucose uptake assay. | |
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MedLine Citation:
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PMID: 22190371 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. ANN NEUROL 2011;70:996-1005. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: Annals of neurology Volume: 70 ISSN: 1531-8249 ISO Abbreviation: Ann. Neurol. Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 996-1005 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 American Neurological Association. |
Affiliation:
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Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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