METAglut1™ is a simple blood test to aid the early diagnosis of GLUT1 Deficiency Syndrome. METAglut1™ is the solution to a major unmet need to aid diagnose children & adults thanks to a non invasive, fast and affordable test for a damaging disease that can be treatable.
What is GLUT1 Deficiency Syndrome?
GLUT1 deficiency syndrome is a rare genetic disorder where the brain doesn’t receive enough glucose (a type of sugar) due to a problem with the GLUT1 protein, which is responsible for transporting glucose across the blood-brain barrier, leading to seizures, developmental delays, and other neurological issues.
What happens in GLUT1 deficiency?
In GLUT1 deficiency syndrome, the GLUT1 protein is either missing or doesn’t function correctly, leading to a reduced supply of glucose to the brain.
Symptoms:
- Seizures: Often begin in infancy and can be difficult to control with medication.
- Developmental delays: Affecting various aspects of development, including motor skills, speech, and cognitive abilities.
- Acquired microcephaly: Reduced head size, as the brain’s growth slows down.
- Movement disorders: Including spasticity (muscle stiffness), ataxia (difficulty with coordination), and dystonia (muscle contractions).
- Other symptoms: Dysarthria (difficulty speaking), lethargy, and episodes of confusion.
Diagnosis
Diagnosis is typically made through a combination of clinical evaluation, cerebrospinal fluid (CSF) glucose measurement, and genetic testing to identify mutations in the SLC2A1 gene, which encodes for the GLUT1 protein.
Early detection is key – Late diagnosis leads to irreversible brain damage
Treatment
The primary treatment for GLUT1 deficiency syndrome is a ketogenic diet, which is a high-fat, very low-carbohydrate diet that forces the body to use fat as its primary energy source, rather than glucose. This can help improve seizure control and brain function.
“It is essential to diagnose as early as possible to allow prompt compensation, through the Ketogenic Diet, for the brain’s lack of fuel…”
“Early identification of children with the disease is important in order to avoid submitting them to possibly ineffective or potentially detrimental treatments with anticonvulsants”
De Giorgis, P. Veggiotti / Seizure 22 (2013) 803–811– GLUT1 deficiency syndrome 2013: Current state of the art