Short answer · Medically reviewed summary · Last updated: 2026-05-08
GLUT1 deficiency, also known as Glucose Transporter Type 1 Deficiency Syndrome, is a rare metabolic disorder characterized by a shortage of the protein required to transport glucose into the brain. It is most commonly referred to by the abbreviations GLUT1-DS or G1D, and is officially classified in medical literature as De Vivo disease. What are the common names and abbreviations for GLUT1 deficiency? Because medical terminology evolves as we learn more about the genetic basis of a condition, GLUT1 deficiency has been known by several names.
GLUT1 deficiency synonyms
Other names for GLUT1 deficiency: synonyms, acronyms and related terms used by doctors and patients.
GLUT1 deficiency, also known as Glucose Transporter Type 1 Deficiency Syndrome, is a rare metabolic disorder characterized by a shortage of the protein required to transport glucose into the brain. It is most commonly referred to by the abbreviations GLUT1-DS or G1D, and is officially classified in medical literature as De Vivo disease.
What are the common names and abbreviations for GLUT1 deficiency?
Because medical terminology evolves as we learn more about the genetic basis of a condition, GLUT1 deficiency has been known by several names. Clinicians and researchers primarily use the following terms to describe the disorder:
- GLUT1-DS: The most widely accepted clinical abbreviation.
- De Vivo disease: Named after Dr. Darryl De Vivo, who first described the condition in 1991.
- Glucose Transporter Type 1 Deficiency Syndrome: The formal, descriptive diagnostic name.
- G1D: A common shorthand used by patient advocacy groups and within the GLUT1 deficiency research community.
- SLC2A1 deficiency syndrome: Refers to the specific gene mutation responsible for the condition.
Why does GLUT1 deficiency have so many names?
The variety of names for GLUT1 deficiency stems from its relatively recent discovery and our improving understanding of its genetic origins. Early reports often used eponymous titles like "De Vivo disease" to honor the primary researcher. As genetic testing became standard, the terminology shifted toward descriptive names based on the underlying mechanism (glucose transport) or the specific genetic locus (SLC2A1). Today, GLUT1 deficiency is the preferred clinical term because it clearly communicates both the protein involved and the nature of the metabolic impairment.
How is GLUT1 deficiency classified internationally?
In global medical registries, GLUT1 deficiency is categorized to ensure accurate tracking for research and patient care. It is listed as ORPHA:1376 in the Orphanet database and carries the OMIM entry #606777. These codes are essential for clinicians when coding GLUT1 deficiency in electronic health records, ensuring that patients receive standardized care across different healthcare systems.
Next steps
- Consult a metabolic specialist or pediatric neurologist for a definitive diagnosis.
- Connect with the 30 members of our GLUT1 deficiency community on DiseaseMaps.org to share experiences.
- Review resources from the Glut1 Deficiency Foundation to stay updated on current clinical trials.
Medical disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: Glucose Transporter Type 1 Deficiency Syndrome (ORPHA:1376).
- NIH Genetic and Rare Diseases (GARD) Information Center: GLUT1 Deficiency Syndrome.
- OMIM (Online Mendelian Inheritance in Man): De Vivo Disease (#606777).
- The Glut1 Deficiency Foundation: Clinical Guidelines and Research Updates.
