First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene

Brain Dev. 2011 Feb;33(2):170-3. doi: 10.1016/j.braindev.2010.03.009. Epub 2010 Apr 22.

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asian People / genetics
  • Blood Glucose / metabolism
  • Carbohydrate Metabolism, Inborn Errors / diet therapy
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Child, Preschool
  • DNA Mutational Analysis
  • Diet, Ketogenic / methods
  • Female
  • Glucose / cerebrospinal fluid
  • Glucose Transporter Type 1 / deficiency*
  • Glucose Transporter Type 1 / genetics*
  • Guanosine / analogs & derivatives
  • Guanosine / metabolism
  • Humans
  • Male
  • Monosaccharide Transport Proteins / deficiency
  • Monosaccharide Transport Proteins / genetics
  • Mutation / genetics*

Substances

  • Blood Glucose
  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human
  • 3'-O-methylguanosine
  • Guanosine
  • Glucose

Supplementary concepts

  • Glut1 Deficiency Syndrome