Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

Ann Nutr Metab. 2010;56(3):225-32. doi: 10.1159/000283242. Epub 2010 Mar 30.

Abstract

Background/objective: Hypoketotic hypoglycaemia and hypertriglyceridaemia are biochemical hallmarks of glycogen storage disease (GSD) 1. Increased malonyl coenzyme A production which compromises oxidation of long-chain fatty acids via carnitine palmitoyltransferase (CPT) 1 inhibition plays a crucial role in the pathogenesis of these complications. Therapy consists primarily of nutritional support including frequent carbohydrate-rich meals. We studied the effect of a diet enriched in medium-chain triglycerides (MCT) on metabolic control/growth in GSD 1 as medium-chain fatty acids can be oxidised independently of CPT 1.

Methods: An adult female, a 1.6-year-old boy with GSD 1a and a 6.5-year-old girl with GSD 1b treated with a classical GSD diet were enrolled; their 'classical GSD diet' was supplemented with MCT fats. Concentrations of glucose, lactate, ketone bodies triglycerides, uric acid, acylcarnitines in blood and organic acids in urine were determined.

Results: No clinical or biochemical side-effects were observed. The MCT diet led to a decrease in uric acid concentrations in all patients. Triglyceride levels were reduced only in the youngest patient, while lactate concentrations did not significantly decrease. The MCT diet allowed for a reduction in carbohydrate and caloric intake required to maintain euglycaemia and led to improvement in growth in the two prepubertal patients.

Conclusions: MCT supplementation had a positive effect on metabolic control and growth in our patients suffering from GSD 1.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Body Height / drug effects
  • Body Weight / physiology
  • Child, Preschool
  • Diet
  • Dietary Carbohydrates / analysis
  • Dietary Carbohydrates / pharmacology
  • Dietary Fats / analysis
  • Dietary Fats / pharmacology
  • Energy Intake / physiology
  • Energy Metabolism / drug effects
  • Female
  • Glycogen Storage Disease Type I / drug therapy*
  • Glycogen Storage Disease Type I / metabolism*
  • Growth / drug effects*
  • Humans
  • Infant
  • Ketone Bodies / metabolism
  • Lactates / metabolism
  • Taste
  • Triglycerides / metabolism
  • Triglycerides / therapeutic use*
  • Uric Acid / blood

Substances

  • Dietary Carbohydrates
  • Dietary Fats
  • Ketone Bodies
  • Lactates
  • Triglycerides
  • Uric Acid