Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: a case series

Nutrition. 2014 Jun;30(6):726-8. doi: 10.1016/j.nut.2014.01.005. Epub 2014 Jan 29.


Objective: The only known treatment of glucose transporter 1 deficiency syndrome (GLUT-1 DS) is a ketogenic diet (KD), which provides the brain with an alternative fuel. Studies in children with intractable epilepsy have shown that a prolonged KD can induce a progressive loss of bone mineral content associated with poor bone health status, probably as a consequence of a chronic acidic environment. The aim of this study is to determine the long-term effects of a KD on body composition and bone mineral status of patients with GLUT-1 DS, is currently unknown.

Methods: In this case series, we report the changes in body composition and bone mineral status observed in three adult patients with GLUT-1 DS who have been treated with a KD for more than 5 y.

Results: A long-term KD did not produce appreciable changes in weight and body composition of adults with GLUT-1 DS. Moreover, we found no evidence of potential adverse effects of a KD on bone health. In summary, this case series contributes to a small but growing body of literature that investigated the potential long-term effects of a KD on bone health.

Conclusions: Our data suggest that maintaining a KD for more than 5 y does not pose any major negative effects on body composition, bone mineral content, and bone mineral density in adults with GLUT-1 DS, a finding that is at variance with previous reports focusing on children with intractable epilepsy. Further studies with larger sizes are needed to confirm and expand our findings.

Keywords: Body composition; Bone health; Glucose transporter 1 deficiency syndrome; Ketogenic diet.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxybutyric Acid / blood
  • Adipose Tissue / metabolism
  • Adult
  • Body Composition*
  • Body Mass Index
  • Body Weight
  • Bone Density / physiology
  • Calcification, Physiologic / physiology*
  • Carbohydrate Metabolism, Inborn Errors / diet therapy*
  • Diet, Ketogenic / adverse effects*
  • Dietary Carbohydrates / administration & dosage
  • Dietary Fats / administration & dosage
  • Dietary Fiber / administration & dosage
  • Energy Intake
  • Epilepsy / diet therapy
  • Female
  • Humans
  • Micronutrients / administration & dosage
  • Monosaccharide Transport Proteins / deficiency*
  • Motor Activity
  • Muscle, Skeletal / physiology
  • Patient Compliance
  • Skinfold Thickness
  • Time Factors*
  • Treatment Outcome
  • Waist Circumference
  • Young Adult


  • Dietary Carbohydrates
  • Dietary Fats
  • Dietary Fiber
  • Micronutrients
  • Monosaccharide Transport Proteins
  • 3-Hydroxybutyric Acid

Supplementary concepts

  • Glut1 Deficiency Syndrome