The hepatic glycogen storage diseases--problems beyond childhood

J Inherit Metab Dis. 1995;18(4):462-72. doi: 10.1007/BF00710057.

Abstract

The introduction of continuous nocturnal enteral glucose feeds and uncooked cornstarch has improved the prognosis for patients with the hepatic glycogen storage diseases. An increasing number of patients are surviving into adulthood in better health, but still at some medical cost. In this review we examine bone mineralization, renal function, hepatic tumours, and vascular endothelial function in GSD I and cardiac function in GSD III. All females over the age of 5 years with GSD I, III, VI and IX had morphologically polycystic ovaries. Thirteen adult GSD I patients have been studied, and been found to have poor bone mineralization and marked renal glomerular and tubular dysfunction. More than half of these patients also had focal hepatic lesions on sonography and yet vascular endothelial function was preserved in the face of hyperlipidaemia. In 12 GSD III patients, one had a focal hepatic lesion and 6 had pronounced left ventricular hypertrophy, although cardiorespiratory function was normal. These data emphasize the multisystem nature of these disorders and highlight the need for careful longterm follow-up.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Child
  • Glycogen Storage Disease / complications
  • Glycogen Storage Disease / genetics
  • Glycogen Storage Disease / physiopathology*
  • Humans
  • Liver Diseases / complications
  • Liver Diseases / genetics
  • Liver Diseases / physiopathology*