[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]

Rev Neurol. 2004 May 1-15;38(9):860-4.
[Article in Spanish]

Abstract

Aim: To define this genetic syndrome.

Development: 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.

Conclusion: 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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Blood-Brain Barrier / physiology
  • Brain Diseases, Metabolic, Inborn / complications
  • Brain Diseases, Metabolic, Inborn / genetics*
  • Brain Diseases, Metabolic, Inborn / physiopathology
  • Diagnosis, Differential
  • Glucose Transporter Type 1
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics*
  • Movement Disorders / etiology
  • Phenotype
  • Spasms, Infantile / etiology
  • Syndrome

Substances

  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human