Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
06 06 2023
06 06 2023
Historique:
received:
10
07
2022
accepted:
02
03
2023
medline:
7
6
2023
pubmed:
20
4
2023
entrez:
19
04
2023
Statut:
ppublish
Résumé
GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes a wide range of neurologic symptoms in children and adults. However, its diagnosis relies on an invasive test, that is, a lumbar puncture (LP) to measure glycorrhachia, and sometimes complex molecular analyses of the We performed a multicenter validation study in France, involving 33 centers. We studied 2 patient cohorts: a prospective cohort consisting of patients with a clinical suspicion of Glut1DS explored through the reference strategy, that is, LP and analyses of the We analyzed 428 patients in the prospective cohort, including 15 patients newly diagnosed with Glut1DS, and 67 patients in the retrospective cohort. METAglut1 was 80% sensitive and >99% specific for the diagnosis of Glut1DS. Concordance analyses showed a substantial agreement between METAglut1 and glycorrhachia. In the prospective cohort, the positive predictive value of METAglut1 was slightly higher than that of glycorrhachia. METAglut1 succeeded to identify patients with Glut1DS with METAglut1 is an easily performed, robust, and noninvasive diagnostic test for the diagnosis of Glut1DS, which allows wide screening of children and adults, including those with atypical forms of this treatable condition. This study provides Class I evidence that a positive METAglut1 test accurately distinguishes patients with suspected GLUT1 deficiency syndrome from other neurologic syndromes as compared with invasive and genetic testing.
Sections du résumé
BACKGROUND AND OBJECTIVE
GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes a wide range of neurologic symptoms in children and adults. However, its diagnosis relies on an invasive test, that is, a lumbar puncture (LP) to measure glycorrhachia, and sometimes complex molecular analyses of the
METHODS
We performed a multicenter validation study in France, involving 33 centers. We studied 2 patient cohorts: a prospective cohort consisting of patients with a clinical suspicion of Glut1DS explored through the reference strategy, that is, LP and analyses of the
RESULTS
We analyzed 428 patients in the prospective cohort, including 15 patients newly diagnosed with Glut1DS, and 67 patients in the retrospective cohort. METAglut1 was 80% sensitive and >99% specific for the diagnosis of Glut1DS. Concordance analyses showed a substantial agreement between METAglut1 and glycorrhachia. In the prospective cohort, the positive predictive value of METAglut1 was slightly higher than that of glycorrhachia. METAglut1 succeeded to identify patients with Glut1DS with
DISCUSSION
METAglut1 is an easily performed, robust, and noninvasive diagnostic test for the diagnosis of Glut1DS, which allows wide screening of children and adults, including those with atypical forms of this treatable condition.
CLASSIFICATION OF EVIDENCE
This study provides Class I evidence that a positive METAglut1 test accurately distinguishes patients with suspected GLUT1 deficiency syndrome from other neurologic syndromes as compared with invasive and genetic testing.
Identifiants
pubmed: 37076312
pii: WNL.0000000000207296
doi: 10.1212/WNL.0000000000207296
pmc: PMC10256121
doi:
Substances chimiques
Monosaccharide Transport Proteins
0
Types de publication
Multicenter Study
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2360-e2373Investigateurs
Isabelle An
(I)
Laurent Bailly
(L)
David Bendetowicz
(D)
Perrine Charles
(P)
Cécile Delorme
(C)
Sophie Demeret
(S)
Camille Giron
(C)
Solveig Heide
(S)
Anna Heinzmann
(A)
Mathilde Lalaude
(M)
Aurélie Méneret
(A)
Nicolas Mezouar
(N)
Marie-Lorraine Monin
(ML)
Linda Mouthon
(L)
Emmanuel Roze
(E)
Clément Tarrano
(C)
Nicolas Villain
(N)
Elise Yazbeck
(E)
Stéphane Auvin
(S)
Lydie Da Costa
(L)
Blandine Dozières
(B)
Vincent des Portes
(VD)
Zeynep Gokce-Samar
(Z)
Eleni Panagiotakaki
(E)
Sabrine Souci
(S)
Joseph Toulouse
(J)
Céline Bellesme
(C)
Hélène Maurey
(H)
Lucie Salah
(L)
Thierry Billette De Villemeur
(TB)
Pauline Garzon
(P)
Bénédicte Héron
(B)
Arnaud Isapof
(A)
Marie-Christine Nougues
(MC)
Claudia Ravelli
(C)
Florence Renaldo
(F)
Diana Rodriguez
(D)
Stéphanie Valence
(S)
Marie-Thérèse Dangles
(MT)
Pascale De Lonlay
(P)
Isabelle Desguerre
(I)
Chloé Durrleman
(C)
Marie Hully
(M)
Francesca Albertini
(F)
Aline Cano
(A)
Brigitte Chabrol
(B)
Julie Chavany
(J)
Elsa Kaphan
(E)
Stanislas Lagarde
(S)
Nathalie Villeneuve
(N)
Justine Avez-Couturier
(J)
Laurence Chaton
(L)
Jean-Christophe Cuvellier
(JC)
Rabha Dehak
(R)
Florence Flamein Ballay
(FF)
Valentine Floret
(V)
Ganaëlle Remérand
(G)
Marie-Thérèse Abi Warde
(MT)
Mathieu Anheim
(M)
Yvan De Feraudy
(Y)
Odile Gebus
(O)
Caroline Perriard
(C)
Marie-Aude Spitz
(MA)
Mirna Khalil
(M)
Cécilia Marelli Tosi
(CM)
Blanca Mercedes Alvarez
(BM)
Pierre Meyer
(P)
Sarai Urtiaga Valle
(SU)
Mathilde Canon
(M)
Christine Ioos
(C)
Caroline Espil
(C)
Marie Husson
(M)
Cyril Goizet
(C)
Vincent Michaud
(V)
Jean-Michel Pedespan
(JM)
Léna Damaj
(L)
Sarah Hadjadj
(S)
Alinoë Lavillaureix
(A)
Jean-Marie Lepage
(JM)
Mélissa Ugolin
(M)
Rachel Froget
(R)
Cécile Laroche
(C)
Claude Cancès
(C)
Yu Jin Salel
(YJ)
Agnès Viguier
(A)
Laure Mazzola
(L)
Laurine Perrin
(L)
Gérard Besson
(G)
Fanny Dubois
(F)
Elodie Lametery
(E)
Coralie Jacquet
(C)
Loïc De Pontual
(L)
Pierre Castelnau
(P)
Emmanuelle Lagrue
(E)
Marc Gibaud
(M)
Mondher Chouchane
(M)
Véronique Darmency
(V)
Clémence Fauconnier Fatus
(CF)
Claire Bilbault
(C)
Anne Charlotte Cullier
(AC)
Jacinthe Mekary
(J)
Jawida Touhami
(J)
Marie-Elodie Baer
(ME)
Nadine Litou
(N)
Simon Samaan
(S)
Christophe Béesau
(C)
Floriane Bitaudeau
(F)
Christelle Cousin
(C)
Elodie Desport
(E)
Lynda Djouadi
(L)
Yasmine Hamadi
(Y)
Emeline Lebreton
(E)
Sandra Moriceau
(S)
Informations de copyright
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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