* . *
  • About
  • Advertise
  • Privacy & Policy
  • Contact
Wednesday, October 1, 2025
Earth-News
  • Home
  • Business
  • Entertainment
    Penn State-Themed Restaurant and Entertainment Spot Happy Valley Live Set to Open in State College – StateCollege.com

    Penn State-Themed Restaurant and Entertainment Spot Happy Valley Live Set to Open in State College – StateCollege.com

    The Police Made Chart History With This 1979 Hit Nearly 50 Years Ago – Yahoo

    How The Police Changed Music Forever with Their Iconic 1979 Hit Nearly 50 Years Ago

    Good Deed Entertainment Acquires Worldwide Rights To Liza Mandelup’s Documentary ‘Caterpillar’ – Deadline

    Good Deed Entertainment Lands Global Rights to Liza Mandelup’s Captivating Documentary ‘Caterpillar

    Danielle Fishel Explains Why Being on “DWTS” Makes Her Feel ‘Like It’s 1994 Again’ Filming “Boy Meets World” (Exclusive) – Yahoo

    Danielle Fishel Explains Why Being on “DWTS” Makes Her Feel ‘Like It’s 1994 Again’ Filming “Boy Meets World” (Exclusive) – Yahoo

    Jussie Smollett Claims He Was ‘Disrespected’ on the ‘Special Forces’ Season Premiere – Yahoo

    Jussie Smollett Opens Up About Feeling ‘Disrespected’ During the ‘Special Forces’ Season Premiere

    TicketSmarter Fall Entertainment Guide – Eastern Illinois University Athletics

    TicketSmarter Fall Entertainment Guide – Eastern Illinois University Athletics

  • General
  • Health
  • News

    Cracking the Code: Why China’s Economic Challenges Aren’t Shaking Markets, Unlike America’s” – Bloomberg

    Trump’s Narrow Window to Spread the Truth About Harris

    Trump’s Narrow Window to Spread the Truth About Harris

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Trending Tags

    • Trump Inauguration
    • United Stated
    • White House
    • Market Stories
    • Election Results
  • Science
  • Sports
  • Technology
    STELLA Automotive AI Appoints Fred Seidelman as Chief Technology Officer – Yahoo Finance

    STELLA Automotive AI Appoints Fred Seidelman as New Chief Technology Officer

    Saving Energy and Money with Smart Technology – Terms of Service with Clare Duffy – Podcast on CNN Podcasts – CNN

    Saving Energy and Money with Smart Technology – Terms of Service with Clare Duffy – Podcast on CNN Podcasts – CNN

    Four Strategic Signals Technology Leaders Are Tuning In To – SPONSOR CONTENT FROM ARM – Harvard Business Review

    Four Essential Strategic Signals Every Technology Leader Should Watch

    Virginia Tech hosts annual New Music + Technology Festival this week – Cardinal News

    Virginia Tech Kicks Off Exciting Annual New Music and Technology Festival This Week

    Why I gave the world wide web away for free | Tim Berners-Lee – The Guardian

    Why I Decided to Make the World Wide Web Free for Everyone | Tim Berners-Lee

    From shale to steam: Fossil fuel technology boosts clean geothermal energy – Washington Examiner

    From Shale to Steam: How Fossil Fuel Technology is Powering a Clean Geothermal Energy Revolution

    Trending Tags

    • Nintendo Switch
    • CES 2017
    • Playstation 4 Pro
    • Mark Zuckerberg
No Result
View All Result
  • Home
  • Business
  • Entertainment
    Penn State-Themed Restaurant and Entertainment Spot Happy Valley Live Set to Open in State College – StateCollege.com

    Penn State-Themed Restaurant and Entertainment Spot Happy Valley Live Set to Open in State College – StateCollege.com

    The Police Made Chart History With This 1979 Hit Nearly 50 Years Ago – Yahoo

    How The Police Changed Music Forever with Their Iconic 1979 Hit Nearly 50 Years Ago

    Good Deed Entertainment Acquires Worldwide Rights To Liza Mandelup’s Documentary ‘Caterpillar’ – Deadline

    Good Deed Entertainment Lands Global Rights to Liza Mandelup’s Captivating Documentary ‘Caterpillar

    Danielle Fishel Explains Why Being on “DWTS” Makes Her Feel ‘Like It’s 1994 Again’ Filming “Boy Meets World” (Exclusive) – Yahoo

    Danielle Fishel Explains Why Being on “DWTS” Makes Her Feel ‘Like It’s 1994 Again’ Filming “Boy Meets World” (Exclusive) – Yahoo

    Jussie Smollett Claims He Was ‘Disrespected’ on the ‘Special Forces’ Season Premiere – Yahoo

    Jussie Smollett Opens Up About Feeling ‘Disrespected’ During the ‘Special Forces’ Season Premiere

    TicketSmarter Fall Entertainment Guide – Eastern Illinois University Athletics

    TicketSmarter Fall Entertainment Guide – Eastern Illinois University Athletics

  • General
  • Health
  • News

    Cracking the Code: Why China’s Economic Challenges Aren’t Shaking Markets, Unlike America’s” – Bloomberg

    Trump’s Narrow Window to Spread the Truth About Harris

    Trump’s Narrow Window to Spread the Truth About Harris

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    Israel-Gaza war live updates: Hamas leader Ismail Haniyeh assassinated in Iran, group says

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    PAP Boss to Niger Delta Youths, Stay Away from the Protest

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Court Restricts Protests In Lagos To Freedom, Peace Park

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Fans React to Jazz Jennings’ Inspiring Weight Loss Journey

    Trending Tags

    • Trump Inauguration
    • United Stated
    • White House
    • Market Stories
    • Election Results
  • Science
  • Sports
  • Technology
    STELLA Automotive AI Appoints Fred Seidelman as Chief Technology Officer – Yahoo Finance

    STELLA Automotive AI Appoints Fred Seidelman as New Chief Technology Officer

    Saving Energy and Money with Smart Technology – Terms of Service with Clare Duffy – Podcast on CNN Podcasts – CNN

    Saving Energy and Money with Smart Technology – Terms of Service with Clare Duffy – Podcast on CNN Podcasts – CNN

    Four Strategic Signals Technology Leaders Are Tuning In To – SPONSOR CONTENT FROM ARM – Harvard Business Review

    Four Essential Strategic Signals Every Technology Leader Should Watch

    Virginia Tech hosts annual New Music + Technology Festival this week – Cardinal News

    Virginia Tech Kicks Off Exciting Annual New Music and Technology Festival This Week

    Why I gave the world wide web away for free | Tim Berners-Lee – The Guardian

    Why I Decided to Make the World Wide Web Free for Everyone | Tim Berners-Lee

    From shale to steam: Fossil fuel technology boosts clean geothermal energy – Washington Examiner

    From Shale to Steam: How Fossil Fuel Technology is Powering a Clean Geothermal Energy Revolution

    Trending Tags

    • Nintendo Switch
    • CES 2017
    • Playstation 4 Pro
    • Mark Zuckerberg
No Result
View All Result
Earth-News
No Result
View All Result
Home Science

Simple Blood Test Can Now Diagnose De Vivo Disease

July 18, 2023
in Science
Simple Blood Test Can Now Diagnose De Vivo Disease
Share on FacebookShare on Twitter

Red Blood Cells

Glut1 deficiency syndrome, a neurological disease caused by a genetic mutation leading to insufficient glucose for the brain, can cause seizures, abnormal movement, and developmental delays. Scientists have developed a blood test called METAglut1, which can diagnose the disease quickly, bypassing the need for an invasive lumbar puncture, with a sensitivity of about 80% and specificity of more than 99%.

Glut1 deficiency syndrome is a relatively obscure neurological condition that remains unknown to the medical community, despite its serious debilitating effects. The disorder results from a mutation in the SLC2A1 gene, leading to an impaired glucose transporter, GLUT1, in affected individuals. Since this transporter plays a critical role in facilitating glucose uptake into glial cells, its malfunction leaves the brain with insufficient sugar necessary for optimal functionality. As a result, patients experience seizures, episodes of unusual movements, and developmental delays.

However, the adverse symptoms can be mitigated by managing the metabolic anomaly causing the disease by adopting a high-fat ketogenic diet. In addition, promising new therapeutic molecules designed to compensate for the poor supply of glucose to brain cells are currently being evaluated.

“Patients who are not diagnosed suffer a regrettable loss of opportunity. They could be treated, says Professor Fanny Mochel, principal investigator of the study. There is an urgent need to identify them better since many are missing or diagnosed too late.”

The incidence of Glut1 deficiency syndrome is estimated to be 1 in 24,000 in the general population. This figure is probably underestimated, as it only considers epileptic patients and not those with isolated, non-specific symptoms such as learning disabilities or abnormal movements. The diagnosis is even more challenging to make because it was previously based on a lumbar puncture supplemented by genetic tests.

“This invasive, often lengthy, and expensive procedure significantly limits access to care, adds the researcher. Hence the interest in looking for a blood biomarker to enable a rapid diagnosis of Glut1 deficiency syndrome.”

Red blood cells lined with clues

Indeed, the GLUT1 transporter is not only abundant in endothelial and glial cells of the brain: it also binds to the surface of erythrocytes, the red blood cells. The diagnostic test designed by the Paris-based medtech METAFORA biosystems makes it possible to quantify GLUT1 on their surface by flow cytometry, a technique routinely used in analysis laboratories. A simple blood sample is required to perform the test without the need to take a fasting patient. The result is available in 48 to 72 hours.

To validate the new test – METAglut1 – teams from AP-HP and 33 French clinical investigation centers, under the direction of Professor Fanny Mochel, recruited 549 patients in a prospective cohort – that is to say, people in whom the disease was suspected – and 87 patients from a retrospective cohort, already diagnosed. The goal? To compare the efficacy and accuracy of METAglut1 with the reference diagnostic test requiring cerebrospinal fluid sampling and genetic analysis.

The researchers’ results indicate that METAglut1 has a sensitivity of about 80%, a specificity of more than 99%, and a high predictive value, a performance comparable to the reference test. “These data allow us to validate the benefit of the test formally, says Professor Fanny Mochel. It will make it possible to look for Glut1 deficiency syndrome in many patients simply and quickly. In the event of a positive result, treatment can be started immediately, significantly improving the prognosis, especially for children in the midst of brain development.”

Therefore, the study’s authors recommend that the test be performed in all children from 3 months of age and adults with intellectual disability, neurodevelopmental disorders, abnormal movements, or epilepsy – especially if it is drug-resistant and if a ketogenic diet alleviates the seizures. Indeed, if used at an early symptomatic stage, METAglut1 can immediately identify 80% of patients with Glut1 deficiency syndrome. For this reason, French National Authority for Health recommends its reimbursement, which paves 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

>>> Read full article>>>
Copyright for syndicated content belongs to the linked Source : SciTechDaily – https://scitechdaily.com/simple-blood-test-can-now-diagnose-de-vivo-disease/

Tags: bloodscienceSimple
Previous Post

Shattering Astronomical Records: The Coldest Star to Emit Radio Waves

Next Post

Samsung’s back-to-school sale drops prices on monitors and SSD storage

PFAS in East Selah drinking water – Washington State Department of Ecology (.gov)

Alarming PFAS Contamination Discovered in East Selah Drinking Water

October 1, 2025
Science Expo – Northern Public Radio

Discover the Wonders of Science at the Exciting Expo!

October 1, 2025
Science and artificial intelligence could help personalize brain stimulation for smokers – News-Medical

How Science and AI Are Transforming Personalized Brain Stimulation to Help Smokers Quit

October 1, 2025
Review: What’s good at new prime-cuts steakhouse in Virginia Beach – Yahoo

Review: What’s good at new prime-cuts steakhouse in Virginia Beach – Yahoo

October 1, 2025
STELLA Automotive AI Appoints Fred Seidelman as Chief Technology Officer – Yahoo Finance

STELLA Automotive AI Appoints Fred Seidelman as New Chief Technology Officer

October 1, 2025
Sports Illustrated’s Men’s College Basketball Preseason Top 25 – Sports Illustrated

Sports Illustrated’s Men’s College Basketball Preseason Top 25 – Sports Illustrated

October 1, 2025
Milan Fashion Week Asks the Question: Is It the Best-Dressed City in The World? – The New York Times

Milan Fashion Week Asks the Question: Is It the Best-Dressed City in The World? – The New York Times

October 1, 2025
How a government shutdown would impact the economy – CBS News

How a Government Shutdown Could Impact the Economy

October 1, 2025
Penn State-Themed Restaurant and Entertainment Spot Happy Valley Live Set to Open in State College – StateCollege.com

Penn State-Themed Restaurant and Entertainment Spot Happy Valley Live Set to Open in State College – StateCollege.com

October 1, 2025

Teresa Nicholson Celebrated as Pardee Hospital’s Teammate of the Year

September 30, 2025

Categories

Archives

October 2025
M T W T F S S
 12345
6789101112
13141516171819
20212223242526
2728293031  
« Sep    
Earth-News.info

The Earth News is an independent English-language daily published Website from all around the World News

Browse by Category

  • Business (20,132)
  • Ecology (845)
  • Economy (865)
  • Entertainment (21,740)
  • General (17,342)
  • Health (9,909)
  • Lifestyle (879)
  • News (22,149)
  • People (868)
  • Politics (876)
  • Science (16,076)
  • Sports (21,366)
  • Technology (15,849)
  • World (848)

Recent News

PFAS in East Selah drinking water – Washington State Department of Ecology (.gov)

Alarming PFAS Contamination Discovered in East Selah Drinking Water

October 1, 2025
Science Expo – Northern Public Radio

Discover the Wonders of Science at the Exciting Expo!

October 1, 2025
  • About
  • Advertise
  • Privacy & Policy
  • Contact

© 2023 earth-news.info

No Result
View All Result

© 2023 earth-news.info

No Result
View All Result

© 2023 earth-news.info

Go to mobile version