title: Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.
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.
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D051272:Glucose Transporter Type 1 / Q000235:genetics*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation / Q000235:genetics*
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human