Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions

J Inherit Metab Dis. 2015 May;38(3):537-43. doi: 10.1007/s10545-015-9811-2. Epub 2015 Jan 30.

Abstract

Hepatic glycogen storage diseases (GSD) underscore the intimate relationship between carbohydrate and lipid metabolism. The hyperlipidemias in hepatic GSD reflect perturbed intracellular metabolism, providing biomarkers in blood to monitor dietary management. In different types of GSD, hyperlipidemias are of a different origin. Hypertriglyceridemia is most prominent in GSD type Ia and associated with long-term outcome morbidity, like pancreatitis and hepatic adenomas. In the ketotic subtypes of GSD, hypertriglyceridemia reflects the age-dependent fasting intolerance, secondary lipolysis and increased mitochondrial fatty acid oxidation. The role of high protein diets is established for ketotic types of GSD, but non-traditional dietary interventions (like medium-chain triglycerides and the ketogenic diet) in hepatic GSD are still controversial and necessitate further studies. Patients with these rare inherited disorders of carbohydrate metabolism meet several criteria of the metabolic syndrome, therefore close monitoring for cardiovascular diseases in ageing GSD patients may be justified.

Publication types

  • Review

MeSH terms

  • Biomarkers
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / diet therapy
  • Humans
  • Hyperlipidemias / physiopathology*
  • Hypertriglyceridemia / physiopathology*
  • Triglycerides / blood*

Substances

  • Biomarkers
  • Triglycerides

Supplementary concepts

  • Hepatorenal form of glycogen storage disease