Glucose Transporter Type 1 Deficiency Syndrome (GTPS)

Alias:
Glut1 Deficiency Syndrome
De Vivo Disease
Glut1 Deficiency
Glut1 Ds
Glucose Transport Defect, Blood-Brain Barrier
Encephalopathy Due to Glut1 Deficiency
Glucose Transporter Protein Syndrome
Gtps
G1d
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glucose Transporter Type 1 Deficiency Syndrome, also known as glut1 deficiency syndrome, 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 Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Glycerin and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and eye.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
8
77

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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