Simple Blood Test Rapidly Diagnoses Rare Neurometabolic Condition

De Vivo disease, also known as glucose transporter type 1 deficiency syndrome (GLUT1-DS), is an uncommon but manageable condition usually characterized by developmental delays, epilepsy, and/or movement disorders in children. Despite the availability of metabolic therapies that can significantly improve symptoms, including epileptic seizures, prompt diagnosis is vital as these treatments are most beneficial when initiated early. Unfortunately, current diagnostic measures often involve invasive methods such as lumbar punctures or complex DNA analysis, which limits their usage. Now, a simple and rapid blood test that is capable of diagnosing De Vivo disease with ease in both adults and children within 48 hours offers a breakthrough for detecting this rare but treatable condition.

A group of researchers from the AP-HP Paris (Paris, France) public hospitals network has developed an innovative diagnostic blood test for De Vivo disease that enables rapid screening for the condition. The revolutionary test has the potential to streamline screening for all patients presenting symptoms such as cognitive impairment, movement disorders, epilepsy, or a combination of these conditions.

In a trial involving 30 De Vivo disease patients of varying ages and symptoms, the diagnostic blood test was compared with samples from 346 healthy individuals. The test demonstrated significant reliability, accurately identifying 78% of De Vivo disease patients, including those with inconclusive genetic analysis. Encouraged by these findings, the researchers have recommended incorporating the new test in standard clinical practice across all neuropediatric and neurology departments. Given its simplicity, the team is optimistic that the test will allow for the diagnosis of more patients with De Vivo disease.

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