Classic glucose transporter type 1 deficiency syndrome
Synonyms: Classic GLUT1 deficiency syndrome | Classic GLUT1-DS | De Vivo disease | Encephalopathy due to GLUT1 deficiency
Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment deceleration of cranial growth leading to microcephaly psychomotor retardation spasticity ataxia dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months following a normal birth and gestation.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Classic glucose transporter type 1 deficiency syndrome?
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Glut1 Deficiency Foundation
The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Genetic Epilepsy Team Australia
Collaboration of research and care
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
For a list of clinical trials in this disease area, please click here.