[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome].
OBJECTIVE
To define this genetic syndrome.


METHODS
The constellation of infantile epilepsy, acquired microcephaly and hypoglychorrachia is characteristic of glucose transporter type 1 (Glut1) deficiency syndrome, a prototype neurometabolic disorder caused by inheritable mutations in the gene SLC2A1. All known mutations reduce the function of Glut1 in the blood brain barrier and thus limit brain glucose availability. As the cerebral metabolic rate for glucose increases during infancy, patients become gradually symptomatic, a phenomenon that underscores the importance of early diagnosis via lumbar puncture and treatment, which has meet with some success in ameliorating several --but not all-- features of the disease.


CONCLUSIONS
The increasing number of mild phenotypic variants being described, owing to the improved awareness of the disease, has led to the consideration of Glut1 deficiency in the diagnosis of infantile seizures, mental retardation, familial epilepsy and movement disorders.
Pascual
J M
JM
Colleen Giblin Laboratories, Neurological Institute of New York, College of Physicians & Surgeons, Columbia University, New York, USA. VeryNervous@neuro.columbia.edu
Lecumberri
B
B
Wang
D
D
Yang
R
R
Engelstad
K
K
De Vivo
D C
DC
D000818:Animals; D001812:Blood-Brain Barrier / Q000502:physiology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D051272:Glucose Transporter Type 1; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D009069:Movement Disorders / Q000209:etiology; D010641:Phenotype; D013036:Spasms, Infantile / Q000209:etiology; D013577:Syndrome
D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human