GLUT-1 deficiency without epilepsy--an exceptional case

J Inherit Metab Dis. 2003;26(6):559-63. doi: 10.1023/a:1025999914822.

Abstract

The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood-brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly. In most patients, treatment with a ketogenic diet proved to be successful in controlling the epilepsy. We report a 9-year-old boy with retardation and ataxia, but without epilepsy, caused by GLUT-1 deficiency, proven biochemically and by DNA analysis. Treatment with a medium-chain triglyceride ketogenic diet had a beneficial effect.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / genetics
  • Blood Glucose / metabolism
  • Carbohydrate Metabolism, Inborn Errors / diet therapy
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / psychology
  • Child
  • DNA / genetics
  • DNA Mutational Analysis
  • Epilepsy / genetics*
  • Erythrocytes / metabolism
  • Glucose / metabolism
  • Glucose Transporter Type 1
  • Humans
  • Intellectual Disability / genetics
  • Intelligence Tests
  • Lactic Acid / blood
  • Lactic Acid / cerebrospinal fluid
  • Male
  • Monosaccharide Transport Proteins / deficiency*
  • Monosaccharide Transport Proteins / genetics*
  • Triglycerides / therapeutic use

Substances

  • Blood Glucose
  • Glucose Transporter Type 1
  • Monosaccharide Transport Proteins
  • SLC2A1 protein, human
  • Triglycerides
  • Lactic Acid
  • DNA
  • Glucose