Classic glucose transporter type 1 deficiency syndrome
Description
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.
Cell Lines
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.