Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome

Neuropediatrics. 2013 Aug;44(4):235-6. doi: 10.1055/s-0033-1336015. Epub 2013 Mar 12.

Abstract

Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed.

Publication types

  • Letter

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Genetic Predisposition to Disease / genetics
  • Glucose Transporter Type 1 / genetics*
  • Humans
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Mutation / genetics*

Substances

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

Supplementary concepts

  • Glut1 Deficiency Syndrome