Glucose transporter type 1 deficiency syndrome

Also known as: De Vivo disease; GLUT1DS

Impaired glucose transport across the blood-brain barrier.

Medical specialty: Neurology
Subspecialty: Neurology / Epilepsy; Metabolic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infantile onset
Gene(s) involved: SLC2A1

Etiology & mechanism

Haploinsufficiency of GLUT1.

Gene(s) involved (1)

SLC2A1

Symptoms & signs (6)

ataxiadevelopmental delayinfantile seizureslow csf glucosemicrocephalyparoxysmal exercise-induced dyskinesia

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