An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to a<i>SLC2A1</i>Mutation

Abstract

This is the fourth pedigree to be described with this most unusual syndrome. The multisystem pathology probably reflects a combination of glucose transport deficiency at the blood-brain barrier (as in typical GLUT1 deficiency) and the deleterious osmotic effects of a cation-leaky membrane protein in the cells where GLUT1 is expressed, notably the red cell. We hope that this detailed description will facilitate rapid diagnosis of this disease entity.