Abstract
A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter.
MeSH terms
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Fanconi Syndrome / complications
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Fanconi Syndrome / diagnosis*
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Fanconi Syndrome / genetics*
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Galactosemias / diagnosis*
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Galactosemias / etiology
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Galactosemias / genetics*
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Gene Deletion
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Glucose Transporter Type 2
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Humans
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Infant, Newborn
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Male
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Monosaccharide Transport Proteins / genetics*
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Neonatal Screening
Substances
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Glucose Transporter Type 2
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Monosaccharide Transport Proteins