Glut1 Deficiency Syndrome 1 (GLUT1DS1)

Glut1 Deficiency Syndrome 1(来自ICD-11)

别称:

Encephalopathy Due to Glut1 Deficiency

Glut-1 Deficiency Syndrome

Glut1ds1

Glut1 Deficiency Syndrome, Type 1, Infantile Onset, Severe

Glut1 Deficiency Syndrome 1, Infantile Onset, Severe

Glucose Transport Defect, Blood-Brain Barrier

Glut1 Deficiency Syndrome Autosomal Recessive

Blood-Brain Barrier Glucose Transport Defect

Glut1 Deficiency Syndrome

Glut1 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

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