Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is glucose transporter type 1 deficiency syndrome diagnosed?

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.[1][2]
Last updated: 12/8/2015

References
  1. 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.
  2. Glucose Transporter Type 1 Deficiency Syndrome. NORD. 2014; https://rarediseases.org/rare-diseases/glucose-transporter-type-1-deficiency-syndrome/.


Testing

  • 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.