AI Article Synopsis

  • Researchers evaluated flow cytometry to measure GLUT1 levels on red blood cells from Japanese patients with glucose transporter 1 deficiency syndrome (Glut1DS).
  • The study included 13 patients with confirmed Glut1DS and analyzed their blood for GLUT1 levels compared to healthy controls.
  • Findings showed that most Glut1DS patients had significantly lower GLUT1 levels, indicating that flow cytometry could be a useful early screening tool for severe cases before serious neurological damage occurs.

Article Abstract

Objective: We assessed the usefulness of flow cytometry as a functional assay to measure glucose transporter 1 (GLUT1) levels on the surface of red blood cells (RBCs) from Japanese patients with glucose transporter 1 deficiency syndrome (Glut1DS).

Methods: We recruited 13 genetically confirmed Glut1DS patients with a solute carrier family 2 member 1 () mutation (eight missense, one frameshift, two nonsense, and two deletion) and one clinically suspected Glut1DS-like patient without an mutation, and collected whole blood with informed consent. We stained pelleted RBCs (1 μL) from the patients with a Glut1.RBD ligand and anti-glycophorin A antibody, which recognizes a human RBC membrane protein, and analyzed the cells using flow cytometry.

Results: Relative GLUT1 levels quantified by flow cytometry in 11 of 13 patients with definite Glut1DS were 90% below those of healthy controls. Relative GLUT1 levels were not reduced in two of 13 Glut1DS patients who had a missense mutation and no intellectual disability and one Glut1DS-like patient without an mutation. Relative GLUT1 levels were significantly reduced in Glut1DS patients with an mutation, more severe intellectual disability, and spasticity.

Conclusions: This method to detect GLUT1 levels on RBCs is simple and appears to be an appropriate screening assay to identify severe Glut1DS patients in the early stage before the development of irreversible neurologic damage caused by chronic hypoglycorrhachia.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817163PMC
http://dx.doi.org/10.1016/j.ymgmr.2022.100954DOI Listing

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