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

Waleed M. Bawazir | Zendy; Evelien Gevers | Zendy; Joanna F. Flatt | Zendy; Ai Leen Ang | Zendy; Benjamin Jacobs | Zendy; Caroline Oren | Zendy; Stephanie Grünewald | Zendy; Mehul Dattani | Zendy; Lesley J. Bruce | Zendy; Gordon W. Stewart | Zendy

Open Access

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

Author(s) -

Waleed M. Bawazir,

Evelien Gevers,

Joanna F. Flatt,

Ai Leen Ang,

Benjamin Jacobs,

Caroline Oren,

Stephanie Grünewald,

Mehul Dattani,

Lesley J. Bruce,

Gordon W. Stewart

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-1399

Subject(s) - hyperkalemia , endocrinology , medicine , glucose transporter , hemolysis , megaloblastic anemia , anemia , insulin

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.

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