Abstract
Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed.
Georg Thieme Verlag KG Stuttgart ยท New York.
MeSH terms
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Carbohydrate Metabolism, Inborn Errors / genetics*
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Genetic Predisposition to Disease / genetics
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Glucose Transporter Type 1 / genetics*
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Humans
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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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Glucose Transporter Type 1
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Monosaccharide Transport Proteins
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SLC2A1 protein, human
Supplementary concepts
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Glut1 Deficiency Syndrome