Oral presentation on METAglut1™ our innovative IVD blood test at the meeting of SENP 2019
March 22, 2019
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June 21, 2019
June 10, 2019.
[SCIENTIFIC PUBLICATION] Company ; METAglut1™
SCIENTIFIC PUBLICATION
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations
Affiliations
1AP-HP, Robert Debré Hospital, Department of Pediatric Neurology, Paris, France.
2The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Medicine (RMH), The University of Melbourne, Melbourne, Australia.
3AP-HP, Bichat-Claude Bernard Hospital, Biochemistry and Genetic Laboratory, Paris, France.
4APHP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France; Sorbonne University, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and ICM, F-75013 Paris, France.
5AP-HP, Robert Debré Hospital, Department of Pediatric Neurology, Paris, France; Université de Paris, INSERM UMR1141, Paris, France. Electronic address: stephane.auvin@inserm.fr.
PMID: 31196579
Abstract
In some patients with GLUT1 deficiency syndrome (GLUT1-DS), the diagnosis can be difficult to reach. We report a child with 2 inherited mutations suggesting an autosomal recessive transmission of SLC2A1 mutations.
Methods: The child and her parents were explored with erythrocyte 3-O-methyl-d-Glucose uptake, glucose uptake in oocytes expressing GLUT1 with the gene mutations and measure of the expression of GLUT1 at the surface of the circulating red blood cells by flow cytometry (METAglut1™ test).
Results: Both erythrocyte glucose uptake and glucose uptake in oocyte with the patient’s mutations did not support the diagnosis of a mild GLUT1-DS phenotype with autosomal recessive transmission of SLC2A1 mutations. Instead, GLUT-1 expression at the surface of the erythrocytes appeared to better correlate with the clinical phenotypes in this family.
Conclusion: The diagnostic value of these functional/expression tools need to be further studied with a focus on mild phenotype of GLUT1-DS.
Keywords: Diagnosis; Epilepsy; GLUT1 deficiency syndrome; Ketogenic diet.
Copyright © 2019 The Japanese Society of Child Neurology. All rights reserved.
