Glucose Transporter Type 1 Deficiency
Also known as: GLUT1 deficiency syndrome, GLUT1 DS/ deficiency syndrome, glucose transporter protein syndrome, De Vivo Disease.
What is glucose transporter type 1 deficiency?
Glucose transporter type 1 is a rare genetic disorder where the protein that is necessary to carry glucose from the bloodstream into the brain is lacking.
What causes glucose transporter type 1 deficiency?
Glucose transporter type 1 deficiency is caused by mutations of the SLC2A1 gene which is most frequented inherited as an autosomal dominant (the gene is located on one of the nonsex chromosomes of either parent and 50% of the children will be affected). Sometimes it results sporadically from a spontaneous genetic change (not inherited) for no reason.
What are the symptoms of glucose transporter type 1 deficiency?
The may be a spectrum of disease with symptoms being different from one affected child to another. Mild cases may be undiagnosed, however usually seizures (five different types of epilepsy which vary in frequency and severity) develop in the first 6 months of life. Other symptoms include abnormality of movements and/or muscle tone which may come and go, abnormalities of cognition (ability to acquire knowledge and understanding through thought, experience and the senses), speech and language problems, children may have a small head, rapid eye and head movements, confusion, drowsiness and lethargy. Other symptoms are also described.
What are glucose transporter type 1 deficiency care options?
Glucose transporter type 1 deficiency does not have a cure. Common treatments include following a ketogenic diet, which is a high-fat, low-carbohydrate diet. Thioctic acid administration may also help some, with symptomatic and supportive care. Genetic counseling may be of benefit to affected families. Anticonvulsants are generally ineffective.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: December 18, 2020 05:05 PM