GLUT 1 deficiency syndrome: SLC2A1 sequencing

Diagnostic Use

GLUT-1 deficiency syndrome is a metabolic disorder characterised by mutations in the SLC2A1 gene. This gene produces a protein called glucose transporter protein type 1 (GLUT1), which transports glucose into cells. In the brain, GLUT1 moves glucose – the brains main energy source – across the blood-brain barrier. Mutations in SLC2A1 reduce or eliminate the function of the GLUT1 protein. This reduces the amount of glucose available to cells in the brain, and therefore affects brain development and function.

GLUT-1 deficiency syndrome affects the nervous system, and can have a variety of signs and symptoms. 90% of individuals have GLUT-1 deficiency syndrome, characterised by frequent seizures beginning early in life. Newborns may have involuntary and rapid eye movements. Babies may have normal sized heads at birth but growth of the brain and skull is slow, resulting in microcephaly. Developmental delay and intellectual disability can therefore occur. Spasticity, ataxia, dysarthria, lethargy, headaches, and myoclonus have also been observed. 10% of patients have a non-epileptic form of the syndrome.


Genetics - Molecular Pathology

Delphic Registration Code



glucose transporter protein
GLUT1 deficiency syndrome

Turnaround Time

4 weeks