Glut1 Deficiency Syndrome 1 (GLUT1DS1)

Glut1 Deficiency Syndrome 1, also known as encephalopathy due to glut1 deficiency, is related to classic glucose transporter type 1 deficiency syndrome and spastic paraplegia-epilepsy-intellectual disability syndrome, 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 and eye, and related phenotypes are seizure and intellectual disability