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GLUT1 (glucose transporter 1) deficiency syndrome is a well-known presentation in pediatric practice. Very rare mutations not only disable carbohydrate transport but also cause the red cell membrane to be constitutively permeant to monovalent cations, namely sodium and potassium.

An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to aSLC2A1Mutation