Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic

Can J Neurol Sci. 2018 Jan;45(1):93-96. doi: 10.1017/cjn.2017.246. Epub 2017 Nov 16.

Abstract

Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies. The prevalence of genetic diagnoses was 21% and prevalence of GLUT1 deficiency was 2.4% in our retrospective cohort study.

Keywords: Epilepsy genetics; GLUT1; Glucose transporter 1 deficiency; Ketogenic diet; SLC2A1.

MeSH terms

  • Adolescent
  • Carbohydrate Metabolism, Inborn Errors / complications*
  • Carbohydrate Metabolism, Inborn Errors / diet therapy
  • Carbohydrate Metabolism, Inborn Errors / epidemiology
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Diet, Ketogenic / methods*
  • Epilepsy / complications*
  • Epilepsy / diet therapy
  • Epilepsy / epidemiology
  • Epilepsy / genetics
  • Female
  • Humans
  • Male
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics
  • Prevalence

Substances

  • Monosaccharide Transport Proteins

Supplementary concepts

  • Glut1 Deficiency Syndrome