Abstract
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.
Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Asian People / genetics
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Blood Glucose / metabolism
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Carbohydrate Metabolism, Inborn Errors / diet therapy
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Carbohydrate Metabolism, Inborn Errors / genetics
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Child, Preschool
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DNA Mutational Analysis
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Diet, Ketogenic / methods
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Female
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Glucose / cerebrospinal fluid
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Glucose Transporter Type 1 / deficiency*
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Glucose Transporter Type 1 / genetics*
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Guanosine / analogs & derivatives
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Guanosine / metabolism
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Humans
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Male
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Monosaccharide Transport Proteins / deficiency
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Monosaccharide Transport Proteins / genetics
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Mutation / genetics*
Substances
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Blood Glucose
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Glucose Transporter Type 1
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Monosaccharide Transport Proteins
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SLC2A1 protein, human
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3'-O-methylguanosine
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Guanosine
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Glucose
Supplementary concepts
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Glut1 Deficiency Syndrome