Glucose transporter type 1 deficiency syndrome
Other Names for this Disease
- GLUT1 deficiency syndrome
- Encephalopathy due to GLUT1 deficiency
- Glucose transport defect, blood-brain barrier
- De Vivo disease
- GLUT-1 deficiency syndrome
Tests & Diagnosis
A diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a lumbar puncture, specialized blood tests to measure the blood concentration of glucose and genetic testing.
Last updated: 12/8/2015
- Dong Wang, MD, Juan M Pascual, MD, PhD, and Darryl De Vivo, MD. Glucose Transporter Type 1 Deficiency Syndrome. GeneReviews. January 2015; http://www.ncbi.nlm.nih.gov/books/NBK1430/#glut1.Clinical_Description.
- Glucose Transporter Type 1 Deficiency Syndrome. NORD. 2014; https://rarediseases.org/rare-diseases/glucose-transporter-type-1-deficiency-syndrome/.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.