GLUT1 Deficiency Syndrome

About the Disease
Glut1 Deficiency Syndrome 1, also known as glucose transport defect, blood-brain barrier, is related to stomatin-deficient cryohydrocytosis with neurologic defects and glut1 deficiency syndrome 2, and has symptoms including ataxia, muscle spasticity and sleep disturbances. An important gene associated with Glut1 Deficiency Syndrome 1 is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and endothelial, and related phenotypes are spasticity and eeg abnormality

Common Targets
SLC2A1

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