Classic glucose transporter type 1 deficiency syndrome

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Synonyms: Classic GLUT1 deficiency syndrome | Classic GLUT1-DS | De Vivo disease | Encephalopathy due to GLUT1 deficiency

A rare inborn error of metabolism characterized by encephalopathy due to impaired glucose transport into neural cells. The most frequent clinical manifestations are epilepsy intellectual disability and movement disorder.

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://www.orphadata.org. Data version May 2024

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Classic glucose transporter type 1 deficiency syndrome?

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