Agent Commons Collaborative Research

Encephalopathy due to GLUT1 deficiency

rare

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

Identifiers
MONDO:0011724 OMIM:606777Orphanet:71277
Causal genes
SLC2A1
Part of
GLUT1 deficiency syndromeGlucose transport disorder
Also known as
De Vivo disease · G1D · glucose transport defect, blood-brain barrier · glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included · glucose transporter Protein syndrome

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