Pathobiology of the Hepatic Glycogen Storage Diseases

Abstract

The purpose of this study is to review the pathobiology of the hepatic glycogen storage diseases (GSD) and recent developments in their management. Increasingly, noninvasive mutation detection has replaced biological and tissue samples as the first line diagnostic method. For type 1 GSD, continuous subcutaneous monitoring has transformed patient monitoring. There is evidence that improved metabolic control can prevent complications such as adenoma formation and renal dysfunction. Improved understanding of the pathophysiology of hepatic adenomata may allow rationalization of their management. Hepatocellular carcinoma only develops in established adenomata, offering an option for prevention. For type 111 GSD, intrinsic liver disease and myopathy become the major clinical concerns after childhood. Type IV GSD is a heterogenous multisystemic disorder which often results in progressive liver and cardiac failure. Recombinant acid α-glucosidase may have a disease-modifying role, but experience remains limited. Types VI and IX GSD are milder diseases where supportive treatment usually results in an excellent long-term outcome. Current management of the hepatic GSDs has significantly improved their outcome and improved metabolic control can prevent many long-term complications.