46 Glucose transporter type 1 deficiency syndrome (glut1 deficiency syndrome) is an inherited condition that affects the nervous system. signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. approximately 10% of affected people have the "non-epileptic" form of glut1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. glut1 deficiency syndrome is caused by changes (mutations) in the slc2a1 gene and is inherited in an autosomal dominant manner. although there is currently no cure for glut1 deficiency syndrome, a special diet (called a ketogenic diet) may help alleviate symptoms
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.