| Glut1 deficiency syndrome and erythrocyte glucose uptake assay. | |
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MedLine Citation:
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PMID: 22190371 Owner: NLM Status: MEDLINE |
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. |
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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; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
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: 2012-02-09 Revised Date: 2013-04-11 |
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 10032, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Blood Glucose
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metabolism* Child, Preschool Erythrocytes / metabolism* Family Health Female Glucose Transporter Type 1 / deficiency*, genetics Guanosine / analogs & derivatives, blood, cerebrospinal fluid Humans Infant Male Metabolic Diseases / blood*, cerebrospinal fluid, complications, genetics Mutation / genetics ROC Curve Seizures / etiology Severity of Illness Index Statistics as Topic |
| Grant Support | |
ID/Acronym/Agency:
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5R01NS37949/NS/NINDS NIH HHS; R01 NS037949/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Blood Glucose; 0/Glucose Transporter Type 1; 0/SLC2A1 protein, human; 10300-27-3/3'-O-methylguanosine; 118-00-3/Guanosine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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