The incidence of Glut1 shortage syndrome is approximated to be 1 in 24,000 in the basic population. This figure is probably undervalued, as it only thinks about epileptic patients and not those with separated, non-specific symptoms such as finding out specials needs or abnormal motions. Because it was formerly based on a lumbar leak supplemented by genetic tests, the diagnosis is even more tough to make.
” This intrusive, typically prolonged, and expensive treatment significantly limits access to care, includes the researcher. The interest in looking for a blood biomarker to allow a quick diagnosis of Glut1 deficiency syndrome.”
Red cell lined with clues
Undoubtedly, the GLUT1 transporter is not only abundant in glial and endothelial cells of the brain: it also binds to the surface area of erythrocytes, the red blood cells. The diagnostic test developed by the Paris-based medtech METAFORA biosystems makes it possible to measure GLUT1 on their surface by circulation cytometry, a technique routinely utilized in analysis laboratories. A basic blood sample is required to perform the test without the need to take a fasting patient. The result is offered in 48 to 72 hours.
To validate the new test– METAglut1– teams from AP-HP and 33 French clinical investigation centers, under the instructions of Professor Fanny Mochel, recruited 549 clients in a prospective cohort– that is to say, people in whom the disease was believed– and 87 clients from a retrospective friend, already detected. The goal? To compare the effectiveness and accuracy of METAglut1 with the referral diagnostic test requiring cerebrospinal fluid tasting and genetic analysis.
The scientists results show that METAglut1 has a sensitivity of about 80%, a specificity of more than 99%, and a high predictive value, a performance comparable to the recommendation test. “These data permit us to validate the advantage of the test officially, says Professor Fanny Mochel. It will make it possible to search for Glut1 shortage syndrome in numerous patients just and rapidly. In the occasion of a favorable outcome, treatment can be started instantly, substantially enhancing the prognosis, particularly for children in the midst of brain development.”
The studys authors advise that the test be carried out in all children from 3 months of age and adults with intellectual special needs, neurodevelopmental disorders, unusual motions, or epilepsy– particularly if it is drug-resistant and if a ketogenic diet relieves the seizures. If used at an early symptomatic stage, METAglut1 can instantly identify 80% of patients with Glut1 shortage syndrome. For this reason, French National Authority for Health suggests its reimbursement, which leads the way for its adoption in Europe and the US.
Reference: “Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome” by Fanny Mochel, Domitille Gras, Marie-Pierre Luton, Manon Nizou, Donatella Giovannini, Caroline Delattre, Mélodie Aubart, Magalie Barth, Anne De Saint-Martin, Diane Doummar, Nouha Essid, Alexa Garros, Caroline Hachon Le Camus, Celia Hoebeke, Sylvie Nguyen The Tich, Maximilien Perivier, Serge Rivera, Anne Rolland, Agathe Roubertie, Catherine Sarret, Caroline Sevin, Dorothee Ville, Marc Sitbon, Jean-Marc Costa, Roser Pons, Angels Garcia-Cazorla, Sandrine Vuillaumier, Vincent Petit, Odile Boespflug-Tanguy and Darryl C. De Vivo, for the MetaGlut1 Study Group, 19 April 2023, Neurology.DOI: 10.1212/ WNL.0000000000207296.
The diagnostic test designed by the Paris-based medtech METAFORA biosystems makes it possible to quantify GLUT1 on their surface area by flow cytometry, a strategy regularly utilized in analysis labs. A simple blood sample is required to carry out the test without the need to take a fasting client. To verify the new test– METAglut1– groups from AP-HP and 33 French clinical examination centers, under the instructions of Professor Fanny Mochel, recruited 549 patients in a prospective associate– that is to say, individuals in whom the disease was presumed– and 87 clients from a retrospective friend, already identified. To compare the efficacy and accuracy of METAglut1 with the referral diagnostic test requiring cerebrospinal fluid tasting and hereditary analysis.
The researchers outcomes show that METAglut1 has a level of sensitivity of about 80%, a specificity of more than 99%, and a high predictive worth, a performance similar to the recommendation test.
Glut1 deficiency syndrome, a neurological disease brought on by a genetic mutation causing inadequate glucose for the brain, can cause seizures, unusual motion, and developmental delays. Scientists have actually developed a blood test called METAglut1, which can detect the illness quickly, bypassing the need for an intrusive back leak, with a sensitivity of about 80% and uniqueness of more than 99%.
Glut1 shortage syndrome is a reasonably obscure neurological condition that remains unidentified to the medical community, regardless of its severe incapacitating effects. The disorder results from a mutation in the SLC2A1 gene, leading to an impaired glucose transporter, GLUT1, in impacted individuals.
The unfavorable signs can be reduced by managing the metabolic abnormality causing the disease by adopting a high-fat ketogenic diet plan. In addition, assuring new healing molecules developed to make up for the bad supply of glucose to brain cells are presently being examined.
” Patients who are not diagnosed suffer a regrettable loss of opportunity. They could be dealt with, says Professor Fanny Mochel, primary private investigator of the research study. There is an immediate requirement to identify them better considering that lots of are missing or identified too late.”