Deficiencia del transportador de glucosa tipo 1 (Glut1): Manifestaciones de un síndrome neurológico hereditario

Translated title of the contribution: Type 1 glucose transporter (Glut1) deficiency: Manifestations of a hereditary neurological syndrome

Juan M. Pascual, B. Lecumberri, D. Wang, R. Yang, K. Engelstad, D. C. De Vivo

Research output: Contribution to journalArticle

7 Scopus citations


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 Glutl deficiency in the diagnosis of infantile seizures, mental retardation, familial epilepsy and movement disorders.

Original languageSpanish
Pages (from-to)860-864
Number of pages5
JournalRevista de Neurologia
Issue number9
Publication statusPublished - May 1 2004



  • Blood brain barrier
  • Epilepsy
  • Hypoglychorrachia
  • Ketogenic diet
  • Microcephaly

ASJC Scopus subject areas

  • Clinical Neurology

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