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A novel mutation in the GLUT2 gene in a patient with Fanconi‐Bickel syndrome detected by neonatal screening for galactosaemia
Author(s) -
Peduto A.,
Spada M.,
Alluto A.,
Dolcetta M. La,
Ponzone A.,
Santer R.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028841.00833.f4
Subject(s) - glut2 , fanconi syndrome , mutation , gene , medicine , galactosemia , genetics , human genetics , endocrinology , biology , biochemistry , galactose , gene expression , kidney
Summary: 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 protein.