Abstract
A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
MeSH terms
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Adult
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Carbohydrate Metabolism, Inborn Errors / diagnosis
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Carbohydrate Metabolism, Inborn Errors / genetics*
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Carbohydrate Metabolism, Inborn Errors / pathology
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Female
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Genetic Counseling*
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Glucose Transporter Type 1 / genetics*
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Heterozygote
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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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Mosaicism
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Mutation
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Pedigree
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