Classic glucose transporter type 1 deficiency syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

Newly diagnosed with
Classic glucose transporter type 1 deficiency syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.