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.

Keywords

glut1 deficiency - SLC2A1 - ketogenic diet

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