Glut1 DS is a rare genetic disease.

Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disease that was first discovered in 1991 and is thought to affect between 3000 and 7000 people in the United States. For most, it is caused by mutations in the SLC2A1 gene.1,2

Glut1 DS In Focus is devoted to the education and awareness of Glut1 DS for patients, caregivers, and health care providers, as well as advancing research to treat this disease.

This website provides information about:

NO-COST GENETIC TESTING

No-cost genetic testing is available for patients with symptoms to help identify
Glut1 DS

CLINICAL STUDIES

Learn about clinical studies in adult and pediatric patients with Glut1 DS

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References: 1. De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325(10):703-709. 2. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013;13(4):342-350. doi:10.1007/s11910-013-0342-7.